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Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive

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 wit...

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Detalles Bibliográficos
Autores principales: Bhargav, Desaraju Suresh, Sreedevi, N., Swapna, N., Vivek, Soumya, Kovvali, Srinivas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770997/
https://www.ncbi.nlm.nih.gov/pubmed/29375817
http://dx.doi.org/10.12688/f1000research.12102.1

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