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Article

First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.

American journal of medical genetics. Part A - 1 Aug 2022

Danda Sumita, Datar Chaitanya, Kher Archana, Deshpande Tanmay, Thomas Maya Mary, Oommen Samuel P

Abstract excerpt

We report here two girls from different Indian families identified with novel variants in the AT Hook DNA Binding Motif Containing 1 gene (AHDC1) causing Xia-Gibbs syndrome. The diagnosis was made by clinical exome in both cases. Inconsistent dysmorphic features such as dolichocephaly in the first patient and brachycephaly in the second were observed. Prominent jaw and gelastic seizures were other features of...

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Identifiers

PMID: 35596688
DOI: 10.1002/ajmg.a.62844

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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