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Article

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

American journal of medical genetics. Part A - 1 Nov 2012

Bober Michael B, Niiler Tim, Duker Angela L, Murray Jennie E, Ketterer Tara, Harley Margaret E, Alvi Sabah, Flora Christina, Rustad Cecilie, Bongers Ernie M H F, Bicknell Louise S, Wise Carol, Jackson Andrew P

Abstract excerpt

Microcephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal growth and microcephaly. Majewski osteodysplastic primordial dwarfism type II (MOPD II) is one of the more common conditions within this group. MOPD II is caused by truncating mutations in pericentrin (PCNT) and is inherited in an autosomal recessive manner. Detailed growth...

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Identifiers

PMID: 22821869
DOI: 10.1002/ajmg.a.35447

Genes

PCNT

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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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Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.PMID 22821869Read ↗

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The shortest of the short: pericentrin mutations and beyond.Semantic proximity Read ↗

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.Semantic proximity Read ↗

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].Semantic proximity Read ↗

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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.Semantic proximity Read ↗

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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