CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

BACKGROUND: Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous studies in families of Asian descent suggest that the severity of the phenoty...

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Detalles Bibliográficos
Autores principales: Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Morrow, Melanie, Zach, Tamara, Anguiano, Arturo, Elnaggar, Mohamed M, Wang, Boris T, Boyar, Fatih Z
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584047/
https://www.ncbi.nlm.nih.gov/pubmed/28878824
http://dx.doi.org/10.1186/s13039-017-0334-4

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