Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly-Reference-Cited by-同舟云学术

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly

Published:2022-01-15 Issue:6 Volume:191 Page:2733-2741
ISSN:0021-1265
Container-title:Irish Journal of Medical Science (1971 -)
language:en
Short-container-title:Ir J Med Sci

Author:

Aryan Hajar,Zokaei Shaghayegh,Farhud Dariush,Keykhaei Mohammad,Ashrafi Mahmoud Reza,Rasulinezhad Maryam,Hosseini Seyyed Mohammad Mahdi,Razmara Ehsan,Tavasoli Ali Reza^ORCID

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11845-021-02890-y.pdf

Reference49 articles.

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2. Woods CG, Bond J, Enard W (2005) Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 76(5):717–728

3. Timothy WY, Mochida GH, Tischfield DJ et al (2010) Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 42(11):1015–1020

4. Hofman MA (1984) A biometric analysis of brain size in micrencephalics. J Neurol 231(2):87–93

5. Barkovich AJ, Kuzniecky RI, Dobyns WB (2001) Radiologic classification of malformations of cortical development. Curr Opin Neurol 14(2):145–149

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