G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
Chen
Nan
N
Xu
Chao
C
Han
Bing
B
Wang
Zhen-Ying
ZY
Song
Ya-Li
YL
Li
Song
S
Zhang
Rui-Li
RL
Pan
Chun-Ming
CM
Zhang
Li
L
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