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Article

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.

Journal of endocrinological investigation - 1 Aug 2018

Crippa M, Giangiobbe S, Villa R, Bestetti I, De Filippis T, Fatti L, Taurino J, Larizza L, Persani L, Bellini F, Finelli P, Bonati M T

Abstract excerpt

PURPOSE: Few examples of the involvement of a single gene in idiopathic short stature have been described until now. Our aim was to identify the causative gene of proportionate short stature in a large family showing co-segregation of the phenotype with the reciprocal translocation t(10;15)(q22;q24). METHODS: FISH mapping was carried out with BACs and long-range PCR probes to identify the smallest genomic regions...

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Source

Identifiers

PMID: 29302920
DOI: 10.1007/s40618-017-0819-3

Genes

ACAN
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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