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Article

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

Journal of medical genetics - 1 Apr 2007

Menten Björn, Buysse Karen, Zahir Farah, Hellemans Jan, Hamilton Sara J, Costa Teresa, Fagerstrom Carrie, Anadiotis George, Kingsbury Daniel, McGillivray Barbara C, Marra Marco A, Friedman Jan M, Speleman Frank, Mortier Geert

Abstract excerpt

This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and...

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Identifiers

PMID: 17220210
DOI: 10.1136/jmg.2006.047860
PMCID: PMC2598049

Genes

LEMD3

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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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