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Article

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

American journal of medical genetics. Part A - 1 Dec 2010

Collinson Morag, Leonard Samantha J, Charlton Jocelyn, Crolla John A, Silve Caroline, Hall Christine M, Oglivie Colin, James Margaret A, Smithson Sarah F

Abstract excerpt

We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22. The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH...

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Topics

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Share to Bone and Bones
Share to Bone Diseases, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 12

Share to Comparative Genomic Hybridization

Share to Parathyroid Hormone-Related Protein

Share to Radiography

Share to Receptor, Parathyroid Hormone, Type 1

Source

Identifiers

PMID: 21082660
DOI: 10.1002/ajmg.a.33567

Genes

PTHLH

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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