Hypomorphic MKS1 mutation in a...

American Journal of Medical Genetics Part A 2016 / 08

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1 -related ciliopathies

Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense-Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., Ahmad, Wasim
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37934
Date:
August, 2016
File:
PDF, 414 KB
english, 2016
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