POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

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 de...

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Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2012
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Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415549/
https://ncbi.nlm.nih.gov/pubmed/22840364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.025
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