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...
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2020-12-01
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Online Access: | https://nmb.abvpress.ru/jour/article/view/400 |
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doaj-760a48b15d544fa1a006b0c0ab45f5b82021-07-29T08:13:29ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432020-12-01103747910.17650/2222-8721-2020-10-3-74-79279Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)D. M. Guseva0E. L. Dadali1Research Centre for Medical Genetics named after academician N.P. BochkovResearch Centre for Medical Genetics named after academician N.P. BochkovThe 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 correlations between the type and location of the mutation and the severity of clinical manifestations of the disease. There is discussed the possible influence of a mutation in the WDR62 gene on the occurrence of a fibrillar astrocytoma.https://nmb.abvpress.ru/jour/article/view/400primary microcephalymri of the brainbrain defectswdr62 geneclinical polymorphism |
collection |
DOAJ |
language |
Russian |
format |
Article |
sources |
DOAJ |
author |
D. M. Guseva E. L. Dadali |
spellingShingle |
D. M. Guseva E. L. Dadali Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) Nervno-Myšečnye Bolezni primary microcephaly mri of the brain brain defects wdr62 gene clinical polymorphism |
author_facet |
D. M. Guseva E. L. Dadali |
author_sort |
D. M. Guseva |
title |
Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) |
title_short |
Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) |
title_full |
Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) |
title_fullStr |
Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) |
title_full_unstemmed |
Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) |
title_sort |
clinical and genetic characteristics of 2 patients from russia with autosomal-recessive microcephaly type 2, due to mutations of the wdr62 gene (omim: 604317) |
publisher |
ABV-press |
series |
Nervno-Myšečnye Bolezni |
issn |
2222-8721 2413-0443 |
publishDate |
2020-12-01 |
description |
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 correlations between the type and location of the mutation and the severity of clinical manifestations of the disease. There is discussed the possible influence of a mutation in the WDR62 gene on the occurrence of a fibrillar astrocytoma. |
topic |
primary microcephaly mri of the brain brain defects wdr62 gene clinical polymorphism |
url |
https://nmb.abvpress.ru/jour/article/view/400 |
work_keys_str_mv |
AT dmguseva clinicalandgeneticcharacteristicsof2patientsfromrussiawithautosomalrecessivemicrocephalytype2duetomutationsofthewdr62geneomim604317 AT eldadali clinicalandgeneticcharacteristicsof2patientsfromrussiawithautosomalrecessivemicrocephalytype2duetomutationsofthewdr62geneomim604317 |
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