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Article

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.

BMC neurology - 16 Jan 2023

Sheth Frenny, Shah Jhanvi, Patel Ketan, Patel Darshan, Jain Deepika, Sheth Jayesh, Sheth Harsh

Abstract excerpt

INTRODUCTION: NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth and a novel report of a sibling pair harboring a homozygous variant in the NEUROG1 gene with autism as an additional phenotype. A brief review of the literature in conjunction...

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Identifiers

PMID: 36647078
DOI: 10.1186/s12883-023-03065-1
PMCID: PMC9841689

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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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