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

Irfanullah; Khan, S.; Ullah, I.; Nasir, A.; Meijer, C.A.; Laurense-Bik, M.; ... ; Ahmad, W. (2016)

Article / Letter to editor

• Joubert syndrome
• phenotypic variation
• exome sequencing
• sanger sequencing
• MKS1 gene
• in-frame deletion

• All authors: Irfanullah; Khan, S.; Ullah, I.; Nasir, A.; Meijer, C.A.; Laurense-Bik, M.; Dunnen, J.T. den; Ruivenkamp, C.A.L.; Hoffer, M.J.V.; Santen, G.W.E.; Ahmad, W.
• Date: 2016-12-31
• Journal: American Journal of Medical Genetics Part A
• Volume: 170
• Issue: 12
• Pages: 3289 - 3293
• DOI: doi:10.1002/ajmg.a.37934