Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

<p>Abstract</p> <p>Background</p> <p>Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been de...

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Bibliographic Details
Main Authors: Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, Billette de Villemeur Thierry, Rodriguez Diana
Format: Article
Language:English
Published: BMC 2012-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pontocerebellar hypoplasia
Microcephaly
<it>CASK </it>gene
Mosaicism
Array-CGH
Online Access:http://www.ojrd.com/content/7/1/18

Internet

http://www.ojrd.com/content/7/1/18

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