Ontology highlight
ABSTRACT:
SUBMITTER: Bhargav DS
PROVIDER: S-EPMC5770997 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
F1000Research 20171221
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 massive parallel sequencing, we identified a novel frame shift insertion in the abnormal spindle-like microcephaly-associated protein gene i ...[more]