Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

Human Mutation

Volumn 8, Issue 1, 1996, Pages 51-56

  Wu, Rina ^a   Legius, Eric ^a   Robberecht, Wim ^a   Dumoulin, Monique ^a   Cassiman, Jean Jacques ^a   Fryns, Jean Pierre ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

LEOPARD syndrome; Multiple lentigines syndrome; Neurofibromatosis type 1 NF1 mutation; Point mutation

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DNA DETERMINATION; FEMALE; GENE MUTATION; GENITAL MALFORMATION; GROWTH RETARDATION; HEART DISEASE; HUMAN; HYPERTELORISM; MENTAL DEFICIENCY; NEUROFIBROMATOSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RNA ANALYSIS; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SEQUENCE; DNA, COMPLEMENTARY; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MUTATION; NEUROFIBROMATOSIS 1; SYNDROME;

PANTHERA PARDUS;

EID: 0029992858     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<51::AID-HUMU7>3.0.CO;2-S     Document Type: Article

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