G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
Nan
N
Chen
Chao
C
Xu
Bing
B
Han
Zhen-Ying
ZY
Wang
Ya-Li
YL
Song
Song
S
Li
Rui-Li
RL
Zhang
Chun-Ming
CM
Pan
Li
L
Zhang
D044466:Asian People; D002681:China; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006197:Hair / Q000473:pathology*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009262:Nails / Q000473:pathology*
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human