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Article

The novel human SHOX allelic variant database.

Human mutation - 1 Oct 2007

Niesler Beate, Röth Ralph, Wilke Steffi, Fujimura Frank, Fischer Christine, Rappold Gudrun

Abstract excerpt

Short stature due to SHOX deficiency represents the most commonly known form of growth failure, with a frequency greater than 1:1,000 in the Caucasian population. As many different mutations can cause SHOX haploinsufficiency, a comprehensive collection of gene variants represents an essential tool to distinguish between functional variants and polymorphisms. We have created a novel and widely extended SHOX...

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Source

Identifiers

PMID: 17726696
DOI: 10.1002/humu.20542

Genes

SHOX

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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