A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.
Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.
Kaoru
K
Hamada
Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.
Rieko
R
Kubo
Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.
Daisuke
D
Nishio
Department of Dermatology, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.
Motonobu
M
Nakamura
D000550:Amblyopia / Q000150:complications / Q000235:genetics*; D002648:Child; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000150:complications / Q000151:congenital* / Q000235:genetics; D034381:Hearing Loss / Q000150:complications / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000150:complications / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D009154:Mutation
C504173:LIPC protein, human; D008049:Lipase