All individuals with variants in gene HSF4

52 entries on 1 page. Showing entries 1 - 52.
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00060061 - - 1 familie, 2 patients M - China Han - - - - CTRCT cataract, congenital 1 1 Juhua Yang
00060063 FamIIPatII1 PubMed: Bu 2002 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - CTRCT infantile cataract, lamellar cataract 1 1 Johan den Dunnen
00060064 Fam PubMed: Bu 2002 2-generation family, affected father/child - - China - - - - - CTRCT unilateral cataract; father 46y-mild cataract similar to senile cataracts with cortical water clefts and lamellar separation 1 2 Johan den Dunnen
00060065 FamI PubMed: Bu 2002, Journal: Bu 2002 5-generation family, 31 affecteds (13F, 18M), unaffected heterozygous carrier parents F;M no China - - - - - CTRCT5 lameller cataract (Marner type) 1 31 Johan den Dunnen
00060066 Fam;FamDenmark;CC00101 PubMed: Marner 1989, PubMed: Bu 2002, PubMed: Kessel 2021 9-generation family, 17 affected F;M - Denmark - - - - - CTRCT Marner cataract (zonular stellate lens opacity, anterior polar opacity, early childhood onset) 1 17 Johan den Dunnen
00060211 - - - M no China - - - - - CTRCT cataract, congenital 1 1 Juhua Yang
00060212 - - - M - China - - - - - CTRCT cataract, congenital 1 1 Juhua Yang
00060213 - - - - no - - - - - - CTRCT cataract, congenital 1 1 Juhua Yang
00060214 - - - F no China - - - - - CTRCT cataract, congenital 1 1 Juhua Yang
00065042 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother F no - - - - - - CCTRCT total cataract; horizontal manifest latent nystagmus 1 2 Johan den Dunnen
00065058 - PubMed: Smaoui 2004 - - - Tunisia - - - - - CTRCT Congenital cataract 1 22 Deepti Anand
00065059 - PubMed: Forshew 2005 - - - Pakistan - - - - - CTRCT Congenital cataract 1 5 Deepti Anand
00065061 - PubMed: Forshew 2005 - - - Pakistan - - - - - ? - 1 5 Deepti Anand
00065062 - PubMed: Ke 2006 - - - China - - - - - CTRCT Congenital cataract 1 7 Deepti Anand
00065063 BUIT-CA01 PubMed: Sajjad 2008 4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives F;M yes Afghanistan;Pakistan - - - - - CTRCT congenital cataract 1 8 Deepti Anand
00065064 - PubMed: Shi 2008 - - - - - - - - - CTRCT Age related cataracts 1 150 Deepti Anand
00065065 - PubMed: Shi 2008 - - - - - - - - - CTRCT Age related cataracts 1 150 Deepti Anand
00065068 - PubMed: Lv 2014 family, 10 affected individuals - - China - - - - - CTRCT Cortical cataract 1 10 Deepti Anand
00065069 - PubMed: Liu 2015 - - - China - - - - - CTRCT Congenital cataract 1 8 Deepti Anand
00260865 Fam60074 PubMed: Chen 2017 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - CTRCT see paper; … 1 3 Johan den Dunnen
00385473 15014851 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385512 17003685 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00392264 10 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease congenital cataract 1 1 LOVD
00414338 WHP5 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00414346 WHP13 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00434019 Fam97001Pat3 PubMed: Jiao 2022 2-generation family, affected father and 2 sons M - Ukraine - - - - - CTRCT congenital nuclear cataract; amblyopia, concomitant strabismus; visual acuity 0.7/0.5 1 3 Johan den Dunnen
00434020 Fam97001Pat4 PubMed: Jiao 2022 son M - Ukraine - - - - - CTRCT congenital hereditary nuclear cataract; axial myopia, amblyopia, concomitant strabismus, lower eyelid tum(Entropon); visual acuity 0.7/0.5 1 1 Johan den Dunnen
00434032 Fam6 PubMed: Zhai 2017 4-generation family, 2 affected (F, M) F - China - - - - - CTRCT lamellar, punctate cataract 1 2 Johan den Dunnen
00434082 Pat57 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral nuclear cataract 1 1 Johan den Dunnen
00434097 CAT-02 PubMed: Cao 2018 3-generation family, 6 affected (4F, 2M) F;M - China - - - - - CTRCT perinuclear cataract 1 6 Johan den Dunnen
00434098 CAT-12 PubMed: Cao 2018 2-generation family, 2 affected (2M) M - China - - - - - CTRCT total cataract 1 2 Johan den Dunnen
00434099 CAT-37 PubMed: Cao 2018 2-generation family, 2 affected (F, M) F;M - China - - - - - CTRCT nuclear cataract 1 2 Johan den Dunnen
00434100 CAT-50 PubMed: Cao 2018 3-generation family, 3 affected (F, 2M) F;M - China - - - - - CTRCT total cataract 1 3 Johan den Dunnen
00434101 CAT-51 PubMed: Cao 2018 3-generation family, 4 affected (2F, 2M) F;M - China - - - - - CTRCT total cataract 1 4 Johan den Dunnen
00434102 family PubMed: Berry 2018 5-generation family, 13 affected (4F, 9M) F;M - United Kingdom (Great Britain) - - - - - CTRCT see paper; ..., congenital lamellar cataract 1 13 Johan den Dunnen
00434110 CC00171 PubMed: Hansen 2009 2-generation family, affected mother/dauhter F - Denmark - - - - - CTRCT - 1 2 Johan den Dunnen
00434111 CC00128 PubMed: Hansen 2009, PubMed: Kessel 2021 4-generation family, 15 affected (8F, 7M) F;M - Denmark - - - - - CTRCT - 1 15 Johan den Dunnen
00434115 CC00109 PubMed: Cao 2018 - - - Denmark - - - - - CTRCT - 1 1 Johan den Dunnen
00434133 Fam5PatIV12 PubMed: Li 2019 6-generation family, 20 affected (9F, 11M) M - China - - - - - CTRCT see paper; ..., nuclear cataract, white opacities 1 20 Johan den Dunnen
00434149 family PubMed: Behnam 2016 6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives M - Iran - - - - - CTRCT congenital cataract, nystagmus 1 2 Johan den Dunnen
00434150 FamC PubMed: Forshew 2005 4-generation family, 5 affected brothers/sister (2F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper 1 5 Johan den Dunnen
00434151 FamD PubMed: Forshew 2005 4-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - CTRCT see paper 1 5 Johan den Dunnen
00434152 family PubMed: Smaoui 2004 8-generation family, 22 affected (14F, 8M) F;M yes Tunisia - - - - - CTRCT see paper 1 22 Johan den Dunnen
00434182 Fam27 PubMed: Fernandez-Alcalde 2021 2-generation family, 1 affected, unaffected heterozygous parents F - Spain - - - - - CTRCT nuclear cataract; no microphthalmia; no microcornea; no iris malformations 2 1 Johan den Dunnen
00434198 WCC18PatII2 PubMed: Zhang 2018 2-generation family, 4 affected (2F, 2M) M - China - - - - - CTRCT zonular opacity 1 4 Johan den Dunnen
00434214 Fam32PatI PubMed: Jackson 2020 - M - - - - - - - ? developmental cataract; congenital aphakia 1 1 Johan den Dunnen
00444998 Pat12 PubMed: Reis 2013 - - - United States - - - - - CTRCT congenital cataract 1 1 Johan den Dunnen
00445065 CC00111 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT cataract 1 1 Johan den Dunnen
00445075 CC0000888 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT isolated cataract 1 1 Johan den Dunnen
00445133 FamJEE13PatIII4 PubMed: Santhiya 2010 3-generation family, 4 affected (2F, 2M) F - India - - - - - CTRCT see paper; ..., triangular central cataract surrounded by cataractous dots and fibers in lens cortex; mother bilateral lamellar with peripheral coronary cataract 1 4 Johan den Dunnen
00446490 Fam93Pat256 PubMed: Liu 2023 - M - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446519 Fam122Pat325 PubMed: Liu 2023 - M - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
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