A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.
Murata
Kaoru
K
Shinkai
Hiroshi
H
Ishikiriyama
Satoshi
S
Yamazaki
Masaaki
M
Fukuzumi
Yasuhito
Y
Hatamochi
Atsushi
A
D015096:3-Hydroxysteroid Dehydrogenases; D004890:Erythema / Q000235:genetics*; D005260:Female; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D007642:Keratosis / Q000235:genetics*; D017354:Point Mutation; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
D015096:3-Hydroxysteroid Dehydrogenases; D006913:Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human