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Article

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.

American journal of medical genetics. Part A - 1 Jul 2012

Izumi Kosuke, Brooks Susan S, Feret Holly A, Zackai Elaine H

Abstract excerpt

Braddock-Carey syndrome is characterized by Pierre Robin sequence, agenesis of the corpus callosum, facial dysmorphisms, developmental delay, and congenital thrombocytopenia. Recently, Braddock-Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the RUNX1 gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. Therefore, the syndrome has emerged as a...

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Source

Identifiers

PMID: 22614953
DOI: 10.1002/ajmg.a.35368

Genes

RUNX1

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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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