A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

Abstract Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha...

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Bibliographic Details
Main Authors: Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu, Saadet Arsan
Format: Article
Language:English
Published: SpringerOpen 2020-03-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Epidermolysis bullosa
Carmi syndrome
Integrin alpha 6
Integrin beta 4
Online Access:http://link.springer.com/article/10.1186/s43042-020-00055-7

Internet

http://link.springer.com/article/10.1186/s43042-020-00055-7

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