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Article

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.

BMC medical genomics - 14 Apr 2022

Hettiarachchi D, Subasinghe S M V, Anandagoda G G, Panchal Hetalkumar, Lai P S, Dissanayake V H W

Abstract excerpt

BACKGROUND: Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications including neurovascular diseases. Biallelic pathogenic variants in the pericentrin gene (PCNT) have been implicated in its...

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Identifiers

PMID: 35422036
DOI: 10.1186/s12920-022-01226-8
PMCID: PMC9009051

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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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