Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene

Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the WDR62 gene. We present three new patients with MCPH2 and compound heterozygous mutations in the WDR62 gene. In all the...

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Detalles Bibliográficos
Autores principales: Slezak, Ryszard, Smigiel, Robert, Obersztyn, Ewa, Pollak, Agnieszka, Dawidziuk, Mateusz, Wiszniewski, Wojciech, Bekiesinska-Figatowska, Monika, Rydzanicz, Malgorzata, Ploski, Rafal, Gawlinski, Pawel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072659/
https://www.ncbi.nlm.nih.gov/pubmed/33921653
http://dx.doi.org/10.3390/genes12040594

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072659/
https://www.ncbi.nlm.nih.gov/pubmed/33921653
http://dx.doi.org/10.3390/genes12040594

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