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Article

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

Annals of neurology - 1 Feb 2018

Al Mutairi Fuad, Alzahrani Fatema, Ababneh Farouq, Kashgari Amna A, Alkuraya Fowzan S

Abstract excerpt

Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTDs in which single variants are sufficient to cause the disease are extremely rare. We...

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Source

Identifiers

PMID: 29360170
DOI: 10.1002/ana.25152

Genes

SMARCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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