Deletion of the entire NF1 gene detected by fish: Four deletion patients associated with severe manifestations

American Journal of Medical Genetics

Volumn 59, Issue 4, 1995, Pages 528-535

  Wu, B L ^a   Austin, M A ^a   Schneider, G H ^a   Boles, R G ^a   Korf, B R ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

developmental delay; facial anomalies; FISH; learning disability; mental retardation; neurofibromas; NF1; NF1 gene deletion

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; DISEASE SEVERITY; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE INSERTION; GENE LOCATION; GROWTH RETARDATION; HUMAN; MALE; NEUROFIBROMA; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0028799029     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320590427     Document Type: Article

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