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Article

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.

American journal of medical genetics. Part A - 1 Dec 2016

Cao Yang, Mitchell Elyse B, Gorski Jerome L, Hollinger Cassandra, Hoppman Nicole L

Abstract excerpt

Here, we report strong evidence for a role of the FNDC3B gene in craniofacial development. Chromosomal microarray identified deletions at 3q26.31 in two patients with dysmorphic facial features. Parental FISH studies demonstrated that they are de novo; therefore, these two 3q26.31 microdeletions likely contribute to the patients' dysmorphic features. Interestingly, the minimal region of overlap contains only the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27541078
DOI: 10.1002/ajmg.a.37892

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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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