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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Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2015
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Article
Online toegang: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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