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Article

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2002

Lichtner P, Attié-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler P J, Meitinger T, Vekemans M

Abstract excerpt

Partial monosomy 10p is a rare chromosomal aberration. Patients often show symptoms of the DiGeorge/velocardiofacial syndrome spectrum. The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus...

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Share to Chromosomes, Human, Pair 10
Share to DiGeorge Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Heart

Share to Gestational Age

Share to Heart Defects, Congenital

Share to Platelet Glycoprotein GPIb-IX Complex

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Source

Identifiers

PMID: 12110949
DOI: 10.1007/s00109-002-0331-9

Genes

DGCR2
GATA3

Provenance

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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