RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized...

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Publicado en:Am J Hum Genet
Main Authors: Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678428/
https://ncbi.nlm.nih.gov/pubmed/26608784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.10.012
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