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

• Main Authors: Imane Cherkaoui Jaouad (Author), Abdelali Zrhidri (Author), Wafaa Jdioui (Author), Jaber Lyahyai (Author), Laure Raymond (Author), Grégory Egéa (Author), Mohamed Taoudi (Author), Said El Mouatassim (Author), Abdelaziz Sefiani (Author)
• Format: Book
• Published: BMC, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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....