<i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive
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 the PYCR2 gene, encoding an enzyme involved in proline synthesis in m...
שמור ב:
| Main Authors: | , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | אנגלית |
| יצא לאור: |
2016
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| גישה מקוונת: | https://doi.org/10.1002/ana.24678 |
| תגים: |
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