All individuals with variants in gene KRT16

70 entries on 1 page. Showing entries 1 - 70.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00054881 Pat1 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y 0 - - EPM6 7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170) 1 1 Johan den Dunnen
00291702 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 18 Mohammed Faruq
00392928 Pat8 PubMed: Terrinoni 2001 patient - - - - - 0 - - PC pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth 1 1 Johan den Dunnen
00392929 Pat9 PubMed: Terrinoni 2001 patient - - - - - 0 - - PC pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth 1 1 Johan den Dunnen
00392942 Fam9 PubMed: Smith 2005 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita type 1 1 1 Johan den Dunnen
00392943 Fam10 PubMed: Smith 2005 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita type 1 1 1 Johan den Dunnen
00392944 Fam11 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita type 1 1 1 Johan den Dunnen
00392954 Fam21 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - PC focal non-epidermolytic palmoplantar keratoderma, minor nail changes, palmoplantar keratoderm 1 1 Johan den Dunnen
00392955 Fam22 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita type 1 1 1 Johan den Dunnen
00392956 Fam23 PubMed: Smith 2005 patient - - United Kingdom (Great Britain) - - 0 - - PC focal non-epidermolytic palmoplantar keratoderma, no nail changes, no oral lesions, palmoplantar keratoderma 1 1 Johan den Dunnen
00392957 Fam24 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita type 1 1 1 Johan den Dunnen
00392958 Fam25 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita type 1 1 1 Johan den Dunnen
00392966 family PubMed: Du 2012 2-generation family, affected mother/daughter; mother F - China - - 0 - - PC see paper; ..., severe hypertrophic toe nail dystrophy, palmoplantar keratoderma, hyperhidrosis hands and feet 1 2 Johan den Dunnen
00392967 family PubMed: Du 2012 daughter F - China - - 0 - - PC see paper; ..., focal plantar hyperkeratosis at pressure points, no nail involvement, no hand involvement, hyperhidrosis hands and feet 1 1 Johan den Dunnen
00393011 Fam43 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393012 Fam44 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 4 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393013 Fam45 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393014 Fam46 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 5 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393015 Fam47 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts, 1 1 Johan den Dunnen
00393016 Fam48 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393017 Fam49 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, plantar keratoderma, 6y-somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393018 Fam50 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 3 thickened toenails, oral leucokeratosis, 1 1 Johan den Dunnen
00393019 Fam51 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 8 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393020 Fam52 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis, 1 1 Johan den Dunnen
00393021 Fam53 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis, 1 1 Johan den Dunnen
00393022 Fam54 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis, 1 1 Johan den Dunnen
00393023 Fam55 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, steatocystoma, 1 1 Johan den Dunnen
00393024 Fam56 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 5 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis, 1 1 Johan den Dunnen
00393025 Fam57 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 2 thickened toenails, oral leucokeratosis, 1 1 Johan den Dunnen
00393026 Fam58 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 3 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393027 Fam59 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), no thickened fingernails, no thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393028 Fam60 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 6 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393029 Fam61 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 7 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393030 Fam62 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 4 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis, 1 1 Johan den Dunnen
00393031 Fam63 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis, 1 1 Johan den Dunnen
00393032 Fam64 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393033 Fam65 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 2 thickened toenails, no oral leucokeratosis, 1 1 Johan den Dunnen
00393034 Fam66 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 2 thickened fingernails, 3 thickened toenails, oral leucokeratosis, 1 1 Johan den Dunnen
00393104 Fam51 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 8y-thickened toenails, 8y-thickened fingernails, 5y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393105 Fam52 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 3y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393106 Fam53 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 30y-thickened toenails, 30y-thickened fingernails, 30y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393107 Fam54 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393108 Fam55 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 15y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393109 Fam56 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 13y-thickened toenails, 30y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393110 Fam57 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 16y-thickened toenails, 7y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393111 Fam58 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 6y-thickened toenails, 15y-thickened fingernails, 5y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393112 Fam59 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 6y-thickened toenails, 7y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393113 Fam60 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 60y-thickened toenails, 6y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393114 Fam61 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 23y-thickened toenails, 23y-thickened fingernails, 14y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393115 Fam62 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 17y-thickened toenails, 13y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393116 Fam63 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 6m-thickened toenails, 6m-thickened fingernails, 6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393117 Fam64 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 3y-thickened toenails, 4y-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393118 Fam65 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 11m-thickened toenails, 7m-thickened fingernails, 1y1m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393119 Fam66 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 2y6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393120 Fam67 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393121 Fam68 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 5y-thickened toenails, 5y-thickened fingernails, 5y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393122 Fam69 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 13y-thickened toenails, 13y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts 1 1 Johan den Dunnen
00393123 Fam70 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393124 Fam71 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393125 Fam72 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 2y-thickened toenails, 2y6m-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393126 Fam73 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 1y-thickened toenails, 7m-thickened fingernails, 12m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393127 Fam74 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 3y-thickened toenails, 5y-thickened fingernails, 4y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393128 Fam75 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - PC pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts 1 1 Johan den Dunnen
00393183 Fam16 PubMed: Liao 2007 patient - - - - - 0 - - PC pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; normal nails; 18m-plantar keratosis; no oral leukokeraotsis; 6y-no nail dystrophy 1 1 Johan den Dunnen
00393184 Fam17 PubMed: Liao 2007 patient - - - - - 0 - - PC pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 8y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes; plantar blisters 1 1 Johan den Dunnen
00393185 Fam18 PubMed: Liao 2007 6-generation family, >8 affected - - - - - 0 - - PC pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 50y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes 1 8 Johan den Dunnen
00393186 Fam19 PubMed: Liao 2007 3-generation family - - - - - 0 - - PC pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 13m-plantar keratosis; no oral leukokeraotsis; very mild nail changes 1 2 Johan den Dunnen
00393187 Fam20 PubMed: Liao 2007 patient - - - - - 0 - - PC pachyonychia congenita type 1; few months-nail changes; 3y-plantar keratosis; oral leukokeraotsis; no follicular keratoses; skin blistering; plantar blisters 1 1 Johan den Dunnen
00393188 Fam21 PubMed: Liao 2007 patient - - - - - 0 - - PC pachyonychia congenita type 1; 6m-nail changes; 2y-plantar keratosis; oral leukokeraotsis; no follicular keratoses; plantar blisters 1 1 Johan den Dunnen
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