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A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family

✍ Scribed by Y.G. Ding; J.Y. Wang; J.J. Qiao; X.H. Mao; S.Q. Cai

Book ID
108671306
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
411 KB
Volume
163
Category
Article
ISSN
0007-0963

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## A diagnosis of IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome was established in a 1-year-old boy with congenital hairlessness, generalized ichthyotic skin changes with follicular hyperkeratoses, and photophobia. IFAP syndrome is considered to be an X-linked recessive tra