Phenotypic spectrum associated with CASK loss-of-function mutations
Phenotypic spectrum associated with CASK loss-of-function mutations
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Author / Creator
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 and Uyanik, Gökhan
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
London: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundHeterozygous 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.MethodsThe study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation,...
Alternative Titles
Full title
Phenotypic spectrum associated with CASK loss-of-function mutations
Authors, Artists and Contributors
Author / Creator
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
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1781200652
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1781200652
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2011-100218
