Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1

American Journal of Medical Genetics

Volumn 136 A, Issue 2, 2005, Pages 198-200

  Titomanlio, Luigi ^a,b   Pierri, Nicola Brunetti ^c   Romano, Alfonso ^b   Imperati, Floriana ^b   Borrelli, Melissa ^b   Barletta, Valentina ^b   Diano, Alvaro Antonio ^d   Castaldo, Imma ^b   Santoro, Lucio ^b   Del Giudice, Ennio ^b  

^a Clinique de Genetique Medicale   (France)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d CARDARELLI HOSPITAL   (Italy)

Author keywords

Cerebellar vermis aplasia; EN2; Joubert syndrome; Orthosympathetic dysfunction; ZIC1

Indexed keywords

ARTICLE; AUTOSOMAL INHERITANCE; BRAIN ATROPHY; BRAIN MALFORMATION; CASE REPORT; CELL DIFFERENTIATION; CELL MIGRATION; CEREBELLAR ATAXIA; CEREBELLUM VERMIS; CEREBELLUM VERMIS APLASIA; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; EN2 GENE; GENE; HUMAN; JOUBERT SYNDROME; KNOCKOUT MOUSE; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NERVOUS SYSTEM DEVELOPMENT; NEUROIMAGING; NYSTAGMUS; PRIORITY JOURNAL; SCHOOL CHILD; ZIC1 GENE;

ABNORMALITIES, MULTIPLE; ADULT; CEREBELLAR ATAXIA; CEREBELLUM; CHILD; DEVELOPMENTAL DISABILITIES; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; NERVE TISSUE PROTEINS; NYSTAGMUS, PATHOLOGIC; TRANSCRIPTION FACTORS;

ATAXIA; MURINAE;

EID: 22044450765     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30795     Document Type: Article

References (15)

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