Genomic analysis of primordial dwarfism reveals novel disease genes

Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has...

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Главные авторы: Shaheen, Ranad, Faqeih, Eissa, Ansari, Shinu, Abdel-Salam, Ghada, Al-Hassnan, Zuhair N., Al-Shidi, Tarfa, Alomar, Rana, Sogaty, Sameera, Alkuraya, Fowzan S.
Формат: Artigo
Язык:Inglês
Опубликовано: Cold Spring Harbor Laboratory Press 2014
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3912419/
https://ncbi.nlm.nih.gov/pubmed/24389050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.160572.113
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