Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report

Background: Autosomal recessive primary microcephaly (Microcephaly Primary Hereditary, MCPH) is a rare disorder, affecting 1 in 10,000 children in areas where consanguineous marriages are common. WDR62 gene mutations are the second most common cause of MCPH. Herein, we report a case of primary micro...

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Detalles Bibliográficos
Autores principales: Yi, You Gyoung, Lee, Dong-Woo, Kim, Jaewon, Jang, Ja-Hyun, Lee, Sae-Mi, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854001/
https://www.ncbi.nlm.nih.gov/pubmed/31788460
http://dx.doi.org/10.3389/fped.2019.00457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854001/
https://www.ncbi.nlm.nih.gov/pubmed/31788460
http://dx.doi.org/10.3389/fped.2019.00457

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