All individuals with variants in gene FAM83G

6 entries on 1 page. Showing entries 1 - 6.
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00466203 patient PubMed: Parra 2025 2-generation family, 1 affected, unaffected parents F yes Algeria - - - - - PPK see paper; ..., 2y-palmoplantar keratoderma palms/soles; bilateral hearing loss; hyperkeratosis heels/lateral face both soles/weight-bearing areas, hands lesions mainly located in fingertips; no hair anomalies, no tooth abnormalities 1 1 Mónica Mora-Gómez
00471096 FamPatII1/2 PubMed: Maruthappu 2018 2-generation family, 2 affected (sister/brother), unaffected non-carrier parents F;M yes Pakistan - - - - - PPK see paper; ..., palmoplantar keratoderma, leukonychia, exuberant curly scalp hair; 2y-progressive development yellowish thickened scaly skin palms/soles ; 10y-19yy-toenail dystrophy; soles diffuse, verrucous hyperkeratosis deep fissuring; thick, bushy hair 1 2 Johan den Dunnen
00471097 patient PubMed: Glennie 2024 2-generation family, 1 affected, unaffected heterozygous carrier sister F - Spain - - - - - PPK see paper; ..., 3y-alterations skin both hands/feet, hair, dystrophic nails; thin/curly/sparse hair, long upper eyelid eyelashes, poor dental enamel 1 1 Johan den Dunnen
00471098 Pat1 PubMed: Van Gisbergen 2025 2-generation family, 1 affected, unaffected parents F yes Netherlands - - - - - PPK see paper; ..., 1d no erythroderma, no neonatal teeth; 2y-keratoderma ingertips, severe diffuse keratoderma with coarse white–yellow scales, painful fissures soles; fingernails mild leuconychia, dystrophic cuticles.; toenails white/brown discoloration, dystrophic with transverse ridges; long curly scalp hair, normal hair growth 1 1 Johan den Dunnen
00471099 Pat2 PubMed: Van Gisbergen 2025 2-generation family, 1 affected, unaffected parents M yes Netherlands - - - - - PPK see paper; ..., 3y-mild diffuse plantar keratoderma distal heels/distal hallux, painful fissures; nails dysplastic, thin/transverse ridges, white/opaque fingernails, dystrophic toenails; normal teeth, normal hair, normal sweating; 8y-mild scaly hyperkeratosis fingertips, palmar hyperlinearity, dystrophic cuticles with erythematous surrounding skin, mild keratotic plaques/keratosis pilaris skin extensor sides knees/elbows 1 1 Johan den Dunnen
00471100 Kromfohrländer dog PubMed: Drogemuller 2014 affected Kromfohrländer dogs - - - - - - - - PPK see paper; ... 1 1 Johan den Dunnen
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