Deletion of the entire NF1 gene causing distinct manifestations in a family

American Journal of Medical Genetics

Volumn 69, Issue 1, 1997, Pages 98-101

  Wu, Bai Lin ^a,b   Schneider, Gretchen H ^a   Korf, Bruce R ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

facial anomalies; familial deletion; FISH; learning disability; neurofibromas; NF1; NF1 gene deletion

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CYTOGENETICS; FACE MALFORMATION; FAMILIAL DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; LEARNING DISORDER; MALE; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; FAMILY; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PROTEINS;

EID: 0031039550     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970303)69:1<98::AID-AJMG19>3.0.CO;2-J     Document Type: Article

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