Pontocerebellar hypoplasia: Review of classification and genetics, and exclusion of several genes known to be important for cerebellar development

Journal of Child Neurology

Volumn 26, Issue 3, 2011, Pages 288-294

  Maricich, Stephen M ^a   Aqeeb, Kaashif A ^b   Moayedi, Yalda ^b   Mathes, Erin L ^a   Patel, Millan S ^c   Chitayat, David ^d   Lyon, Gilles ^e   Leroy, Jules G ^f   Zoghbi, Huda Y ^b,g  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

aplasia; cerebellum; development; inferior olive; morphogenesis; pons; postocerebellar

Indexed keywords

ARGININE TRANSFER RNA LIGASE; ENDONUCLEASE; PROTEIN SERINE THREONINE KINASE; SIGNAL PEPTIDE; TRANSCRIPTION FACTOR;

ATOH1 GENE; BARHL1 GENE; BRAIN DEVELOPMENT; CEREBELLUM; CEREBELLUM DISEASE; CLINICAL FEATURE; DISEASE CLASSIFICATION; EN1 GENE; EN2 GENE; FGF8 GENE; GBX2 GENE; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; NEUROIMAGING; NEUROPATHOLOGY; OTX2 GENE; PATHOGENESIS; PONTOCEREBELLAR HYPOPLASIA; PONTOCEREBELLAR HYPOPLASIA 1; PONTOCEREBELLAR HYPOPLASIA 2; PONTOCEREBELLAR HYPOPLASIA 3; PONTOCEREBELLAR HYPOPLASIA 4; PONTOCEREBELLAR HYPOPLASIA 5; PONTOCEREBELLAR HYPOPLASIA 6; PRIORITY JOURNAL; PTF1A GENE; RARS2 GENE; REVIEW; TSEN2 GENE; TSEN34 GENE; TSEN54 GENE; VRK1 GENE; WNT1 GENE;

AGE OF ONSET; CEREBELLUM; DNA MUTATIONAL ANALYSIS; ENDORIBONUCLEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES;

EID: 79952677351     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810380047     Document Type: Review

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