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Article

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

American journal of medical genetics. Part A - 1 Jul 2008

Vatanavicharn Nithiwat, Lachman Ralph S, Rimoin David L

Abstract excerpt

A multilayered patella is a characteristic radiographic finding of recessive multiple epiphyseal dysplasia (rMED) caused by DTDST mutations. However it has been recently reported in a dominant MED case with a COL9A2 mutation. We report on a new radiographic patellar finding in a patient with pseudoachondroplasia and a heterozygous COMP mutation. It is similar to the radiographic appearance of fusing multilayered...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18546327
DOI: 10.1002/ajmg.a.32313

Genes

COMP

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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