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Article

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.

Clinical genetics - 1 Sept 2020

Waich Stephanie, Janecke Andreas R, Parson Walther, Greber-Platzer Susanne, Müller Thomas, Huber Lukas A, Valovka Taras, Vodopiutz Julia

Abstract excerpt

Biallelic loss-of-function mutations in the centrosomal pericentrin gene (PCNT) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a high risk of cerebral vascular anomalies. Here, we report two siblings with MOPDII and attenuated growth...

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Source

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Identifiers

PMID: 32557621
DOI: 10.1111/cge.13797
PMCID: PMC7497047

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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