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Ichthyosis follicularis alopecia photophobia (IFAP) syndrome
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Ichthyosis follicularis alopecia photophobia (IFAP) syndrome10122Ichthyosis follicularis alopecia photophobia (IFAP) syndrome

Ichthyosis follicularis alopecia photophobia (IFAP) syndrome

MBTPS2

SREBP

2011  
1
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
[21600032] Orphanet J Rare Dis 6(-): 29 (2011)
2009  
2
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
[19361614] Am J Hum Genet 84(4): 459-67 (2009)

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