PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive

OBJECTIVE: A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to mutations in PYCR2 gene, encoding an enzyme involved in proline synthes...

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Bibliografiska uppgifter
I publikationen:Ann Neurol
Huvudupphovsmän: Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, Gamal, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Joseph G.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4938747/
https://ncbi.nlm.nih.gov/pubmed/27130255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24678
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