Article
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.
American journal of medical genetics. Part A - 1 Nov 2021
Soyer Tutku, Karaosmanoglu Beren, Taskiran Ekim Z, Kiper Pelin Özlem Şimşek, Karnak İbrahim, Boduroğlu Koray, Utine Gülen Eda
Abstract excerpt
Pyloric atresia (PA) is a rare gastrointestinal anomaly that occurs either as an isolated lesion or in association with other congenital or hereditary anomalies. Familial occurrence of PA with epidermolysis bullosa (EB) has been well documented and variants in ITGA6, ITGB4, and PLEC are known to cause EB with PA. However, no gene variants have been defined in familial isolated PA. Five siblings with familial...
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