| Literature DB >> 27535217 |
Isabelle Thiffault1, Geneviève Bernard2.
Abstract
We comment on the recent publication by Khalifa and Naffa who are reporting a young girl with variants in both WDR45 and POLR3A, which they state contribute to her clinical manifestations. We are arguing in this letter that the clinical, MRI, and genetics findings are not compatible with 4H leukodystrophy and that this patient is not affected by this condition.Entities:
Keywords: 4H leukodystrophy; POLR3-related leukodystrophy; POLR3A; Whole exome sequencing
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Year: 2016 PMID： 27535217 DOI： 10.1016/j.ejmg.2016.08.002
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708