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Genetic causes of MCPH in consanguineous Pakistani families.

Authors :
Kraemer, Nadine
Picker‐Minh, Sylvie
Abbasi, Ansar A.
Fröhler, Sebastian
Ninnemann, Olaf
Khan, Muhammad N.
Ali, Ghazanfar
Chen, Wei
Kaindl, Angela M.
Source :
Clinical Genetics; Jun2016, Vol. 89 Issue 6, p744-745, 2p
Publication Year :
2016

Abstract

The article discusses the results of a genetic study on a cohort of 15 consanguineous families with a microcephaly (MCPH) phenotype from the Azad Jammu and Kashmir (AJK) territory in Northern Pakistan. It suggests that the high incidence of MCPH in Northern Pakistan can be attributed to ASPM mutations which coincides with a high percentage of ASPM mutations in MCPH worldwide.

Details

Language :
English
ISSN :
00099163
Volume :
89
Issue :
6
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
115421154
Full Text :
https://doi.org/10.1111/cge.12685