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

• मुख्य लेखकों: Imane Cherkaoui Jaouad (लेखक), Abdelali Zrhidri (लेखक), Wafaa Jdioui (लेखक), Jaber Lyahyai (लेखक), Laure Raymond (लेखक), Grégory Egéa (लेखक), Mohamed Taoudi (लेखक), Said El Mouatassim (लेखक), Abdelaziz Sefiani (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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....