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Article

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

Journal of pediatric orthopedics - 1 Sept 2014

Karatas Ali F, Bober Michael B, Rogers Kenneth, Duker Angela L, Ditro Colleen P, Mackenzie William G

Abstract excerpt

INTRODUCTION: Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24705347
DOI: 10.1097/BPO.0000000000000183

Genes

PCNT

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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Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.Semantic proximity Read ↗

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