A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture and variable degrees of intellectual impairment. Clinical...

Descripción completa

Detalles Bibliográficos
Autores principales: Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Jdioui, Wafaa, Lyahyai, Jaber, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052603/
https://www.ncbi.nlm.nih.gov/pubmed/30021525
http://dx.doi.org/10.1186/s12881-018-0625-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052603/
https://www.ncbi.nlm.nih.gov/pubmed/30021525
http://dx.doi.org/10.1186/s12881-018-0625-6

Ejemplares similares