Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report

American Journal of Medical Genetics, Part A

Volumn 146, Issue 11, 2008, Pages 1444-1452

  Stewart, H ^a   Bowker, C ^b   Edees, S ^c   Smalley, S ^d   Crocker, M ^a   Mechan, D ^e   Forrester, N ^f   Spurlock, G ^f   Upadhyaya, M ^f  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c ROYAL BERKSHIRE NHS FOUNDATION TRUST   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

^f CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Congenital; Disseminated; Neurofibromatosis type 1; NF1 gene

Indexed keywords

NEUROFIBROMIN; PROTEIN P53;

ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; INFANT; MICROSATELLITE INSTABILITY; NEUROFIBROMATOSIS; PRIORITY JOURNAL; TISSUE SECTION;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENES, NEUROFIBROMATOSIS 1; GENES, P53; GENETIC MARKERS; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; LOSS OF HETEROZYGOSITY; NEUROFIBROMATOSIS 1; SEQUENCE DELETION;

EID: 44449110635     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32305     Document Type: Article

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