Pontocerebellar hypoplasia

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

Volumn 166, Issue 2, 2014, Pages 173-183

  Rudnik Schöneborn, Sabine ^a   Barth, Peter G ^b   Zerres, Klaus ^c  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Classification; Genetics; Pontocerebellar hypoplasia

Indexed keywords

ARTICLE; BASAL GANGLION; BRAIN CORTEX; BRAIN FOURTH VENTRICLE; BRAIN FUNCTION; CEREBELLUM HYPOPLASIA; COGNITION; COMPARATIVE STUDY; DIFFERENTIAL DIAGNOSIS; DYSKINESIA; EMBRYOLOGY; HUMAN; LIFESPAN; MUSCLE TONE; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOGENESIS; PONTOCEREBELLAR HYPOPLASIA; PONTOCEREBELLAR HYPOPLASIA TYPE 1A; PONTOCEREBELLAR HYPOPLASIA TYPE 1B; PONTOCEREBELLAR HYPOPLASIA TYPE 2A; PONTOCEREBELLAR HYPOPLASIA TYPE 2B; PONTOCEREBELLAR HYPOPLASIA TYPE 2C; PONTOCEREBELLAR HYPOPLASIA TYPE 2D; PONTOCEREBELLAR HYPOPLASIA TYPE 3; PONTOCEREBELLAR HYPOPLASIA TYPE 4; PONTOCEREBELLAR HYPOPLASIA TYPE 5; PONTOCEREBELLAR HYPOPLASIA TYPE 6; PONTOCEREBELLAR HYPOPLASIA TYPE 7; PONTOCEREBELLAR HYPOPLASIA TYPE 8; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESTLESSNESS; SEIZURE; SPEECH DEVELOPMENT; SPINAL MUSCULAR ATROPHY; CEREBELLUM; CEREBELLUM DISEASE; CLASSIFICATION; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

CEREBELLAR DISEASES; CEREBELLUM; DIAGNOSIS, DIFFERENTIAL; HUMANS; MAGNETIC RESONANCE IMAGING; NEUROIMAGING; PHENOTYPE;

EID: 84902547048     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31403     Document Type: Article

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