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Article

Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.

American journal of medical genetics. Part A - 1 Dec 2025

Imhoff Julia, Schmidt Hans Christian, Belau Matthias Hans, Hagens Johanna, Lange Mario, Tegtmeyer Daniel, Reinshagen Konrad, Harms Frederike Leonie, Tomuschat Christian

Abstract excerpt

Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early-onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations. We report a patient born to consanguineous parents carrying a novel...

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PMID: 40685546
DOI: 10.1002/ajmg.a.64189

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MIA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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