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Article

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.

Gene - 15 Apr 2022

Spurna Zuzana, Capkova Pavlina, Srovnal Josef, Duchoslavova Jana, Punova Lucia, Aleksijevic Darina, Vrtel Radek

Abstract excerpt

The short stature homeobox-containing (SHOX) is the most frequently analysed gene in patients classified as short stature patients (ISS) or diagnosed with Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), or Madelung deformity (MD). However, clinical testing of this gene focuses primarily on single nucleotide variants (SNV) in its coding sequences and copy number variants (CNV) overlapping...

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Identifiers

PMID: 35074420
DOI: 10.1016/j.gene.2022.146238

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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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