Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

Human Mutation

Volumn 32, Issue 6, 2011, Pages

  Vogt, Julia ^a   Kohlhase, Jürgen ^b   Morlot, Susanne ^c   Kluwe, Lan ^d   Mautner, Victor Felix ^d   Cooper, David N ^e   Kehrer Sawatzki, Hildegard ^a  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c MVZ Wagnerstibbe ^*  (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Monozygotic twins; Mosaicism; Neurofibromatosis type 1; Phenotype discordance; Postzygotic mutation

Indexed keywords

ALLELE; BLASTOCYST; BLOOD; CASE REPORT; CHEEK MUCOSA; CHROMOSOME 17; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MICROSATELLITE MARKER; MONOZYGOTIC TWINS; MORULA; MOSAICISM; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS TYPE 1; NEUROFIBROMATOSIS TYPE 1 GENE; NONSENSE MUTATION; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; URINE; ZYGOTE;

CAFE-AU-LAIT SPOTS; CHILD, PRESCHOOL; HETEROZYGOTE; HUMANS; MALE; MOSAICISM; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; TWINS, MONOZYGOTIC; ZYGOTE;

EID: 79957611686     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21476     Document Type: Note

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