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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...

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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

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