Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

Human Genetics

Volumn 102, Issue 5, 1998, Pages 591-597

  Upadhyaya, M ^a   Ruggieri, M ^b,c   Maynard, J ^a   Osborn, M ^a   Hartog, C ^a   Mudd, S ^a   Penttinen, M ^d   Cordeiro, I ^e   Ponder, M ^f   Ponder, B A J ^f   Krawczak, M ^a   Cooper, D N ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CATANIA   (Italy)

^d TURKU UNIVERSITY HOSPITAL   (Finland)

^e HOSPITAL DE SANTA MARIA   (Portugal)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA DETERMINATION; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DELETION; HUMANS; LEARNING DISORDERS; MALE; MOTHERS; NEUROFIBROMATOSES; NEUROFIBROMIN 1; PROTEINS;

EID: 0031744843     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050746     Document Type: Article

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