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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Slezak, Ryszard, Smigiel, Robert, Obersztyn, Ewa, Pollak, Agnieszka, Dawidziuk, Mateusz, Wiszniewski, Wojciech, Bekiesinska-Figatowska, Monika, Rydzanicz, Malgorzata, Ploski, Rafal, Gawlinski, Pawel
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8072659/
https://ncbi.nlm.nih.gov/pubmed/33921653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040594
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