MCPH1: A Novel Case Report and a Review of the Literature

Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, n...

Descripción completa

Detalles Bibliográficos
Autores principales: Caraffi, Stefano Giuseppe, Pollazzon, Marzia, Farooq, Muhammad, Fatima, Ambrin, Larsen, Lars Allan, Zuntini, Roberta, Napoli, Manuela, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032034/
https://www.ncbi.nlm.nih.gov/pubmed/35456440
http://dx.doi.org/10.3390/genes13040634

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032034/
https://www.ncbi.nlm.nih.gov/pubmed/35456440
http://dx.doi.org/10.3390/genes13040634

Ejemplares similares