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