title: A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.
authors.forename: Y G
authors.initials: YG
authors.lastname: Ding
authors.forename: J Y
authors.initials: JY
authors.lastname: Wang
authors.forename: J J
authors.initials: JJ
authors.lastname: Qiao
authors.forename: X H
authors.initials: XH
authors.lastname: Mao
authors.forename: S Q
authors.initials: SQ
authors.lastname: Cai
mesh_terms: 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
chemical_list: D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human