Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Genes (Basel)
Autors principals: Slezak, Ryszard, Smigiel, Robert, Obersztyn, Ewa, Pollak, Agnieszka, Dawidziuk, Mateusz, Wiszniewski, Wojciech, Bekiesinska-Figatowska, Monika, Rydzanicz, Malgorzata, Ploski, Rafal, Gawlinski, Pawel
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!