Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies

Author(s):
Irfanullah; Khan, S.; Ullah, I.; Nasir, A.; Meijer, C.A.; Laurense-Bik, M.; Dunnen, J.T. den (0000-0002-6304-1710); Ruivenkamp, C.A.L.; Hoffer, M.J.V. (0000-0002-1812-7670); Santen, G.W.E.; Ahmad, W.
Published
2016
Publication type
Article / Letter to editor
Joubert syndromephenotypic variationexome sequencingsanger sequencingMKS1 genein-frame deletion
Date issued
2016-12-31
Language
English
Is part of
American Journal of Medical Genetics Part A (2016), Vol. 170, no. 12, p. 3289-3293
hdl
1887/112962
doi
10.1002/ajmg.a.37934