A novel single base pair duplication in WDR62 causes primary microcephaly

BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. CASE PRESENTATION: In this study we report on three Pakistani males from a consanguineous famil...

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Detalles Bibliográficos
Autores principales: Rupp, Verena, Rauf, Sobiah, Naveed, Ishrat, Christian, Windpassinger, Mir, Asif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258795/
https://www.ncbi.nlm.nih.gov/pubmed/25303973
http://dx.doi.org/10.1186/s12881-014-0107-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258795/
https://www.ncbi.nlm.nih.gov/pubmed/25303973
http://dx.doi.org/10.1186/s12881-014-0107-4

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