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Article

Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.

American journal of medical genetics. Part A - 1 Jul 2021

Mak Bryan C, Sanchez Russo Rossana, Gambello Michael J, Fleischer Nicole, Black Emily D, Leslie Elizabeth, Murphy Melissa M, Mulle Jennifer Gladys

Abstract excerpt

3q29 deletion syndrome (3q29del) is a recurrent deletion syndrome associated with neuropsychiatric disorders and congenital anomalies. Dysmorphic facial features have been described but not systematically characterized. This study aims to detail the 3q29del craniofacial phenotype and use a machine learning approach to categorize individuals with 3q29del through analysis of 2D photos. Detailed dysmorphology exam...

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Identifiers

PMID: 33938623
DOI: 10.1002/ajmg.a.62227
PMCID: PMC8250870

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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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