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Article

Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.

Journal of endocrinological investigation - 1 Jun 2010

Iughetti L, Madeo S, Predieri B

Abstract excerpt

Short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 on the distal end of the X and Y chromosomes at Xp22.3 and Yp11.3. The haploinsufficiency of SHOX is correlated with short stature, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Subjects with Turner syndrome (TS) present a SHOX haploinsufficiency that appears to be substantially responsible for their short stature....

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Source

Identifiers

PMID: 21057184

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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Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.PMID 21057184Read ↗

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Short stature due to SHOX deficiency: genotype, phenotype, and therapy.Semantic proximity Read ↗

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.Semantic proximity Read ↗

SHOX in short stature syndromes.Semantic proximity Read ↗

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Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.Semantic proximity Read ↗

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The role of the SHOX gene in the pathophysiology of Turner syndrome.Semantic proximity Read ↗

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