Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a r...
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
About this item
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Author / Creator
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 and Rodriguez, Diana
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1587d52f2d1940738c11f90c72fe6802
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1587d52f2d1940738c11f90c72fe6802
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-7-18
