A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.
Ding
Y G
YG
Wang
J Y
JY
Qiao
J J
JJ
Mao
X H
XH
Cai
S Q
SQ
D000328:Adult; D000505:Alopecia / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D010375:Pedigree; D020795:Photophobia / Q000235:genetics*; D013577:Syndrome
D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human