Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)

Autor:	D. M. Guseva, E. L. Dadali
Jazyk:	ruština
Rok vydání:	2020
Předmět:	primary microcephaly mri of the brain brain defects wdr62 gene clinical polymorphism Neurology. Diseases of the nervous system RC346-429
Zdroj:	Нервно-мышечные болезни, Vol 10, Iss 3, Pp 74-79 (2020)
Druh dokumentu:	article
ISSN:	2222-8721 2413-0443
DOI:	10.17650/2222-8721-2020-10-3-74-79
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/760a48b15d544fa1a006b0c0ab45f5b8 Zobrazit plný text záznamu View record in DOAJ