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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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
Fag:
Online adgang: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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