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Article

Familial growth and skeletal features associated with SHOX haploinsufficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2003

Munns C F J, Glass I A, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold G A, Hyland V J, Batch J A

Abstract excerpt

This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and phenotype of 26 SHOX haploinsufficient individuals with 45 relatives and population standards. It confirmed that SHOX haploinsufficiency leads to growth restriction fro...

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Source

Identifiers

PMID: 14513875
DOI: 10.1515/jpem.2003.16.7.987

Genes

SHOX
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14513875-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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