Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Soyer, Tutku; Karaosmanoglu, Beren; Taskiran, Ekim Z; Kiper, Pelin Özlem Simsek; Karnak, Ibrahim; Boduroglu, Koray; Utine, Gülen Eda

Soyer, Tutku; Karaosmanoglu, Beren; Taskiran, Ekim Z; Kiper, Pelin Özlem Simsek; Karnak, Ibrahim; Boduroglu, Koray; Utine, Gülen Eda.

Affiliation

Soyer T; Department of Pediatric Surgery, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Karaosmanoglu B; Department of Medical Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Taskiran EZ; Department of Medical Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Kiper PÖS; Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Karnak I; Department of Pediatric Surgery, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

Am J Med Genet A ; 185(11): 3427-3432, 2021 11.

Article in En | MEDLINE | ID: mdl-34403180

Subject(s)
Key words

epidermolysis bullosa; exome sequencing; familial; integrin B4; pyloric atresia

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pylorus / Epidermolysis Bullosa / Gastric Outlet Obstruction / Genetic Predisposition to Disease / Integrin beta4 Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Turquía

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