Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene , which causes microcephaly 5 , primary , autosomal recessive [ version 1 ; referees : awaiting peer review ]

  • Published 2018

Abstract

Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using… (More)

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