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

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Burglen, Lydie ^a,b,c   Chantot Bastaraud, Sandra ^a,b   Garel, Catherine ^a,b   Milh, Mathieu ^d   Touraine, Renaud ^e   Zanni, Ginevra ^f   Petit, Florence ^g   Afenjar, Alexandra ^a,b   Goizet, Cyril ^h   Barresi, Sabina ^f   Coussement, Aurélie ⁱ   Ioos, Christine ^j   Lazaro, Leila ^k   Joriot, Sylvie ^a,g   Desguerre, Isabelle ^l   Lacombe, Didier ^h   Des Portes, Vincent ^a,m   Bertini, Enrico ^f   Siffroi, Jean Pierre ^a,b,n   Billette De Villemeur, Thierry ^a,b,n   Rodriguez, Diana ^a,b,c,n   more..

^a Section of Radiology   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d TIMONE HOSPITAL   (France)

^e UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h BORDEAUX UNIVERSITY HOSPITAL   (France)

ⁱ Hôpital Cochin ^*  (France)

^j RAYMOND POINCARÉ HOSPITAL   (France)

^k CENTRE HOSPITALIER   (France)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m UNIVERSITÉ LYON 1   (France)

ⁿ SORBONNE UNIVERSITÉ   (France)

more..

Author keywords

Array CGH; CASK gene; Microcephaly; Mosaicism; Pontocerebellar hypoplasia

Indexed keywords

CALCIUM CALMODULIN DEPENDENT PROTEIN KINASE; CASK KINASES; GUANYLATE KINASE;

ADOLESCENT; ARTICLE; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE SEVERITY; DYSTONIA; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CORRELATION; GENETIC SCREENING; GROWTH RETARDATION; HUMAN; INFORMATION PROCESSING; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MOSAICISM; NEUROIMAGING; NEURORADIOLOGY; PHENOTYPE; PONTOCEREBELLAR HYPOPLASIA; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RNA SPLICING; SCHOOL CHILD; SCOLIOSIS; X CHROMOSOME LINKED DISORDER; GENETICS; MUTATION; OLIVOPONTOCEREBELLAR ATROPHY; X CHROMOSOME INACTIVATION;

FEMALE; GUANYLATE KINASE; HUMANS; MALE; MOSAICISM; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; PHENOTYPE; X CHROMOSOME INACTIVATION;

EID: 84858809441     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-18     Document Type: Article

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