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Article

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

Journal of medical case reports - 13 Jun 2014

Pachajoa Harry, Ruiz-Botero Felipe, Isaza Carolina

Abstract excerpt

INTRODUCTION: Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head...

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Antigens
Child, Preschool
Colombia
Dwarfism
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fetal Growth Retardation

Osteochondrodysplasias

Source

Open in PubMed Open full text

Identifiers

PMID: 24928221
DOI: 10.1186/1752-1947-8-191
PMCID: PMC4086705

Genes

PCNT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.PMID 24928221Read ↗

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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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Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.Semantic proximity Read ↗

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