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Article

Usefulness of MLPA in the detection of SHOX deletions.

European journal of medical genetics - 1 Jan 2000

Funari Mariana F A, Jorge Alexander A L, Souza Silvia C A L, Billerbeck Ana E C, Arnhold Ivo J P, Mendonca Berenice B, Nishi Mirian Y

Abstract excerpt

SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds of isolated haploinsufficiency; therefore, it is important to determine the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20538086
DOI: 10.1016/j.ejmg.2010.06.001

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20538086-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Usefulness of MLPA in the detection of SHOX deletions.PMID 20538086Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

Different approaches in the molecular analysis of the SHOX gene dysfunctions.Semantic proximity Read ↗

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

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

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.Semantic proximity Read ↗

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.Semantic proximity Read ↗

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Unexpected phenotype in a boy with trisomy of the SHOX gene.Semantic proximity Read ↗

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.Semantic proximity Read ↗

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity.Semantic proximity Read ↗

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Semantic proximity Read ↗

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