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Article

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.

International journal of pediatric otorhinolaryngology - 1 Sept 2011

Friedman Marcia A, Miletta Nathanial, Roe Cheryl, Wang Dongliang, Morrow Bernice E, Kates Wendy R, Higgins Anne Marie, Shprintzen Robert J

Abstract excerpt

OBJECTIVE: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21763005
DOI: 10.1016/j.ijporl.2011.06.013
PMCID: PMC3162093

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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