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Article

10p12.1 deletion: HDR phenotype without DGS2 features.

Experimental and molecular pathology - 1 Feb 2009

Benetti Elisa, Murer Luisa, Bordugo Andrea, Andreetta Barbara, Artifoni Lina

Abstract excerpt

GATA3 gene encodes a transcription factor expressed during thymus, liver, kidney, adrenal gland, central and peripheral nervous systems, placenta and T lymphocytes embryonic development. Mutations of GATA3 cause Hypoparathyroidism, sensorineural Deafness and Renal dysplasia syndrome (HDR). We report the case of a girl with a terminal deletion of the short arm of chromosome 10 (10p12.1-pter), including both HDR...

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Share to Chromosomes, Human, Pair 10
Share to DiGeorge Syndrome
Share to GATA3 Transcription Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

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Share to Platelet Glycoprotein GPIb-IX Complex

Source

Identifiers

PMID: 19022243
DOI: 10.1016/j.yexmp.2008.10.003

Genes

GATA3
DGCR2

Provenance

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