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

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; de Villemeur, Thierry Billette; Rodriguez, Diana

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; de Villemeur, Thierry Billette; Rodriguez, Diana.

Affiliation

Burglen L; Centre de Référence Maladies Rares « malformations et maladies congénitales du cervelet ¼, Hôpital Trousseau-Paris, CHU de Lyon, CHU de Lille, Paris, France. lydie.burglen@trs.aphp.fr

Orphanet J Rare Dis ; 7: 18, 2012 Mar 27.

Article in En | MEDLINE | ID: mdl-22452838

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Olivopontocerebellar Atrophies / Guanylate Kinases / Mosaicism / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2012 Document type: Article Affiliation country: Country of publication:

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