Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
The article describes the clinical and genetic characteristics of 2 patients from Russia with autosomal recessive primary microcephaly type 2, caused by previously described and newly identified mutations in the WDR62 gene. The data obtained the support the hypothesis that there are no clear correla...
Main Authors: | , |
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Format: | Article |
Language: | Russian |
Published: |
ABV-press
2020-12-01
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Series: | Nervno-Myšečnye Bolezni |
Subjects: | |
Online Access: | https://nmb.abvpress.ru/jour/article/view/400 |