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Article

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

BMC medical genetics - 18 Jul 2018

Cherkaoui Jaouad Imane, Zrhidri Abdelali, Jdioui Wafaa, Lyahyai Jaber, Raymond Laure, Egéa Grégory, Taoudi Mohamed, El Mouatassim Said, Sefiani Abdelaziz

Abstract excerpt

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 and genetic heterogeneity in genetic disorders represent a major diagnostic challenge. CASE PRESENTATION: Two...

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PMID: 30021525
DOI: 10.1186/s12881-018-0625-6
PMCID: PMC6052603

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