In:
American Journal of Medical Genetics Part A, Wiley, Vol. 188, No. 8 ( 2022-08), p. 2501-2504
Abstract:
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 patient 1. Thus, this syndrome, with developmental delay, poor expressive language and overlapping clinical phenotype requires the utility of next generation sequencing for diagnostic confirmation.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v188.8
DOI:
10.1002/ajmg.a.62844
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
1493479-6
SSG:
12
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