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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Detalhes bibliográficos
Main Authors: Shaheen, Ranad, Faqeih, Eissa, Ansari, Shinu, Abdel-Salam, Ghada, Al-Hassnan, Zuhair N., Al-Shidi, Tarfa, Alomar, Rana, Sogaty, Sameera, Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2014
Assuntos:
Research
Acesso em linha: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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