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Article

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Journal of medical genetics - 1 May 2007

Rappold Gudrun, Blum Werner F, Shavrikova Elena P, Crowe Brenda J, Roeth Ralph, Quigley Charmian A, Ross Judith L, Niesler Beate

Abstract excerpt

BACKGROUND: Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short stature with highly...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17182655
DOI: 10.1136/jmg.2006.046581
PMCID: PMC2597980

Genes

SHOX
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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