Clinical and molecular analysis in Joubert syndrome

American Journal of Medical Genetics

Volumn 72, Issue 1, 1997, Pages 59-62

  Pellegrino, Joan E ^a,b   Lensch, M William ^a   Muenke, Maxmilian ^a   Chance, Phillip F ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Cerebellar vermis hypoplasia; Joubert syndrome; WNT 1

Indexed keywords

ONCOPROTEIN;

ARTICLE; CEREBELLUM HYPOPLASIA; COLOBOMA; FEMALE; GROWTH RETARDATION; HUMAN; JOUBERT SYNDROME; KIDNEY CYST; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; POLYDACTYLY; PRIORITY JOURNAL; SCHOOL CHILD; TONGUE TUMOR;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHILD; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; FEMALE; HUMANS; MALE; MITOGENS; MUSCLE HYPOTONIA; PROTO-ONCOGENE PROTEINS; RESPIRATORY SYSTEM ABNORMALITIES; SYNDROME; WNT PROTEINS; WNT1 PROTEIN; ZEBRAFISH PROTEINS;

EID: 0030929513     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T     Document Type: Article

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