IFAP sendromu
Ichthyosis Follicularis, Alopecia Photophobia
Kalıtsal - XLR
Gelişme geriliği
Mikrosefali
Alopesi
Kaş ve kirpik yokluğu
Kornea ülserleri/opasiteleri
Keratit
Fotofobi
İşitme sorunları
Yarık damak
Unilateral toraks hipoplazisi
Kosta anomalileri
Herniler
Hirschsprung hastalığı
İnmemiş testis
Displastik/kistik böbrekler
Vertebra anomalileri
Skolyoz
Deride ektodermal displazi bulguları
Psikomotor gelişme ve zeka geriliği
Beyinde malformasyonlar
Oligohidramnios
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Oeffner F, Fischer G, Happle R, et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. American Journal of Human Genetics, 84: 459-467, 2009
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Oeffner F, Martinez F, Schaffer J, et al. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. (Letter) Experimental Dermatology, 20: 447-456, 2011
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Naiki M, Mizuno S, Yamada K, et al. MBTPS2 mutation causes BRESEK/BRESHECK syndrome. American Journal of Medical Genetics, 158A: 97-102, 2012
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Wang HJ, Tang ZL, Lin ZM, et al. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. Clinical & Experimental Dermatology, 39: 158-161, 2014