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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Auteurs principaux: Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Ghada M. H. Abdel‐Salam, Zuhair N. Al‐Hassnan, Tarfa Alshidi, Rana Alomar, Sameera Sogaty, Fowzan S. Alkuraya
Format: Artigo
Langue:anglais
Publié: 2014
Accès en ligne:https://doi.org/10.1101/gr.160572.113
http://genome.cshlp.org/content/24/2/291.full.pdf
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