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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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| Τόπος έκδοσης: | Ann Neurol |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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