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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Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2015
Teme:
Report
Online dostop: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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