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Article

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.

Human reproduction (Oxford, England) - 1 Nov 2013

Chianese C, Lo Giacco D, Tüttelmann F, Ferlin A, Ntostis P, Vinci S, Balercia G, Ars E, Ruiz-Castañé E, Giglio S, Forti G, Kliesch S, Krausz C

Abstract excerpt

STUDY QUESTION: Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and their male descendents? SUMMARY ANSWER: The present study shows that SHOX haploinsufficiency is unlikely to be associated with Y-chromosome...

Read the complete abstract on PubMed

Topics

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Share to Chromosomes, Human, Y
Share to Comparative Genomic Hybridization
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Homeodomain Proteins

Share to Infertility, Male

Share to Karyotype

Share to Short Stature Homeobox Protein

Source

Identifiers

PMID: 24008148
DOI: 10.1093/humrep/det322

Genes

SHOX
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24008148-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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