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Article

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.

European journal of pediatrics - 2 Jun 2026

Doğan Arı Ayşe Burcu, Arı Hasan, Çakar Esra Şükran, Solmaz Taha Mustafa, Taşdelen Elifcan, Büyükyılmaz Gönül, Gürbüz Fatih, Savaş Erdeve Şenay, Kılıç Esra

Abstract excerpt

Short stature homeobox gene (SHOX) deficiency disorders, caused by deletions or duplications involving the SHOX gene or its enhancer regions, as well as pathogenic variants, exhibit a broad phenotypic spectrum ranging from Langer mesomelic dysplasia (LMD) to Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). In this study, we aimed to highlight the phenotypic and genetic heterogeneity of SHOX...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42230379
DOI: 10.1007/s00431-026-07128-6

Genes

SHOX
EHMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.PMID 42230379Read ↗

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