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Article

Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.

Hormone research - 1 Jan 2008

Messina M F, Aguennouz M, Arrigo T, Rodolico C, Valenzise M, Musumeci O, Vita G, Lanzano N, De Luca F

Abstract excerpt

Short stature is a well-recognized feature of Duchenne muscular dystrophy, whilst it has been reported rarely in Becker muscular dystrophy (BMD). Here we report two brothers with BMD, who exhibited a very different growth pattern. Whereas in the short brother (-2.2 SDS) molecular investigation revealed a G367A mutation in the short stature homeobox containing (SHOX) gene located in the Xp22.3 region, no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18059093
DOI: 10.1159/000111816

Genes

SDS
SHOX

Variants

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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Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.PMID 18059093Read ↗

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Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.Semantic proximity Read ↗

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