Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Despite recent advances in understanding the genetic bases of microcephaly, a large number of cases of microcephaly remain unexplained, suggesting that many microcephaly syndromes and associated genes have yet to be identified. Here, we report mutations in PYCR2, which encodes an enzyme in the proli...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4570282/
https://ncbi.nlm.nih.gov/pubmed/25865492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.03.003
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