Article
Phenotypic spectrum associated with CASK loss-of-function mutations.
Journal of medical genetics - 1 Nov 2011
Moog Ute, Kutsche Kerstin, Kortüm Fanny, Chilian Bettina, Bierhals Tatjana, Apeshiotis Neophytos, Balg Stefanie, Chassaing Nicolas, Coubes Christine, Das Soma, Engels Hartmut, Van Esch Hilde, Grasshoff Ute, Heise Marisol, Isidor Bertrand, Jarvis Joanna, Koehler Udo, Martin Thomas, Oehl-Jaschkowitz Barbara, Ortibus Els, Pilz Daniela T, Prabhakar Prab, Rappold Gudrun, Rau Isabella, Rettenberger Günther, Schlüter Gregor, Scott Richard H, Shoukier Moonef, Wohlleber Eva, Zirn Birgit, Dobyns William B, Uyanik Gökhan
Abstract excerpt
BACKGROUND: Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia. METHODS: The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and/or quantitative...
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