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Article

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

European journal of medical genetics - 1 Feb 2022

Slavotinek Anne, Lefebvre Mathilde, Brehin Anne-Claire, Thauvin Christel, Patrier Sophie, Sparks Teresa N, Norton Mary, Yu Jingwei, Huang Eric

Abstract excerpt

The ARID1A gene is an infrequent cause of Coffin-Siris syndrome (CSS) and has been associated with severe to profound developmental delays and hypotonia in addition to characteristic craniofacial and digital findings. We present three fetuses and a male neonate with ventriculomegaly/hydrocephalus, absence of the corpus callosum (ACC), cerebellar hypoplasia, retinal dysplasia, lung lobulation defects, renal...

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Identifiers

PMID: 34942405
DOI: 10.1016/j.ejmg.2021.104407
PMCID: PMC9162882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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