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Article

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.

Journal of medical genetics - 1 Dec 2014

Shaheen Ranad, Al Tala Saeed, Almoisheer Agaadir, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Primordial dwarfism (PD) is a heterogeneous clinical entity characterised by severe prenatal and postnatal growth deficiency. Despite the recent wave of disease gene discovery, the causal mutations in many PD patients remain unknown. OBJECTIVE: To describe a PD family that maps to a n...

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Source

Identifiers

PMID: 25320347
DOI: 10.1136/jmedgenet-2014-102790

Genes

PLK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25320347-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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