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

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

Abstract 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...

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Bibliographic Details
Main Authors: Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Melanie Morrow, Tamara Zach, Arturo Anguiano, Mohamed M Elnaggar, Boris T Wang, Fatih Z Boyar
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Molecular Cytogenetics
Subjects:
Primary microcephaly
MCPH1 gene
Microdeletion
Online Access:http://link.springer.com/article/10.1186/s13039-017-0334-4

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http://link.springer.com/article/10.1186/s13039-017-0334-4

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