Article

A Novel Homozygous TTC7A Missense Mutation Results In Familial Multiple Intestinal Atresia And Combined Immunodeficiency

2021-07-08

Abstract excerpt

<title>Abstract</title> <p>Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders characterized by intestinal obstructions and profound immune defects. The study of patients with MIA and related disorders has established that tetratricopeptide repeat domain 7A (TTC7A) plays a critical role in intestinal and immune homeostasis and it is now shown that biallelic miss...

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Literature Corpus work: 79f16eb1-0377-5d6b-b468-877ab06027f4
DOI: 10.21203/rs.3.rs-635099/v1

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