Article
Phenotypic and molecular insights into CASK-related disorders in males.
Orphanet journal of rare diseases - 12 Apr 2015
Moog Ute, Bierhals Tatjana, Brand Kristina, Bautsch Jan, Biskup Saskia, Brune Thomas, Denecke Jonas, de Die-Smulders Christine E, Evers Christina, Hempel Maja, Henneke Marco, Yntema Helger, Menten Björn, Pietz Joachim, Pfundt Rolph, Schmidtke Jörg, Steinemann Doris, Stumpel Constance T, Van Maldergem Lionel, Kutsche Kerstin
Abstract excerpt
BACKGROUND: Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK mutations have also been reported in males. The associated phenotypes range from nonsyndromic ID to Ohtahara syndrome with cerebellar hypoplasia. However, the phenotypic spectrum in males has...
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