Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 2, 2014, Pages 211-226

  Poretti, Andrea ^a   Boltshauser, Eugen ^b   Doherty, Dan ^c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b Pediatric Neurology at the University Children's Hospital Pediatric Neurology   (Switzerland)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cerebellum; Disruptions; Genetics; Hypoplasia; Malformations; Neuroimaging

Indexed keywords

ALPHA DYSTROGLYCAN; TERATOGENIC AGENT;

APRAXIA; ARTICLE; CEREBELLAR ATAXIA; CEREBELLUM AGENESIS; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHROMOSOME ABERRATION; CLINICAL FEATURE; COGAN SYNDROME; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL INFECTION; CONGENITAL OCULAR MOTOR APRAXIA TYPE COGAN; CORTICAL DYSPLASIA; DANDY WALKER SYNDROME; DIFFERENTIAL DIAGNOSIS; DIFFUSION TENSOR IMAGING; DYSPLASIA; GENETIC DISORDER; HUMAN; HYPOPLASIA; JOUBERT SYNDROME; METABOLIC DISORDER; MUSCULAR DYSTROPHY; NEUROIMAGING; NON PROGRESSIVE CEREBELLAR ATAXIAS; PONTINE TEGMENTAL CAP DYSPLASIA; PONTOCEREBELLAR HYPOPLASIA; PRENATAL EXPOSURE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RHOMBENCEPHALOSYNAPSIS; CEREBELLUM; CLASSIFICATION; DEVELOPMENTAL DISABILITIES; NERVOUS SYSTEM MALFORMATIONS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRACTICE GUIDELINE; SEVERITY OF ILLNESS INDEX;

CEREBELLUM; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; HUMANS; MAGNETIC RESONANCE IMAGING; NERVOUS SYSTEM MALFORMATIONS; NEUROIMAGING; PRACTICE GUIDELINES AS TOPIC; SEVERITY OF ILLNESS INDEX;

EID: 84902544433     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31398     Document Type: Article

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