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Article

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.

American journal of medical genetics. Part A - 1 Nov 2020

Sihombing Nydia Rena Benita, Winarni Tri Indah, van Bokhoven Hans, van der Burgt Ineke, de Leeuw Nicole, Faradz Sultana M H

Abstract excerpt

We present a family with three girls presenting similar dysmorphic features, including overgrowth, intellectual disability, macrocephaly, prominent forehead, midface retrusion, strabismus, and scoliosis. Both parents were unaffected, suggesting the presence of an autosomal recessive syndrome. Following exome sequencing, a heterozygous nonsense variant was identified in the NFIX gene in all three siblings. The...

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Identifiers

PMID: 32945093
DOI: 10.1002/ajmg.a.61835

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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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