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Article

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

American journal of human genetics - 10 Aug 2012

Shaheen Ranad, Faqeih Eissa, Shamseldin Hanan E, Noche Ramil R, Sunker Asma, Alshammari Muneera J, Al-Sheddi Tarfa, Adly Nouran, Al-Dosari Mohammed S, Megason Sean G, Al-Husain Muneera, Al-Mohanna Futwan, Alkuraya Fowzan S

Abstract excerpt

Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset. Significant strides have been made in the last few years toward improved understanding of the molecular underpinning of the limited growth that characterizes the embryonic and postnatal development of PD individuals. These include impaired mitotic mechanics, abnormal IGF2 expression, perturbed...

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Identifiers

PMID: 22840364
DOI: 10.1016/j.ajhg.2012.05.025
PMCID: PMC3415549

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IGF2

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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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