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Article

ITGB4-Related pyloric atresia without epidermolysis in two siblings.

European journal of medical genetics - 1 Dec 2024

Aliyeva Lamiya, Beken Serdar, Mancilar Hanifenur, Albayrak Eda, Korkmaz Ayse, Tander Burak, Alanay Yasemin

Abstract excerpt

Pyloric atresia is a rare gastrointestinal anomaly with an incidence of 1/100,000 in live births. It is usually seen as an isolated condition or in combination with other congenital or hereditary anomalies. Autosomal recessive inherited either fatal or non-fatal variants of pyloric atresia with epidermolysis bullosa are known due to mutations in ITGA6, ITGB4, and PLEC genes. ITGB4 gene mutation was recently...

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PMID: 39322060
DOI: 10.1016/j.ejmg.2024.104971

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