Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

American Journal of Medical Genetics, Part A

Volumn 146, Issue 6, 2008, Pages 691-699

  Kehrer Sawatzki, Hildegard ^a   Schmid, Eva ^a   Fünsterer, Carsten ^b   Kluwe, Lan ^b   Mautner, Victor Felix ^b  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Genotype phenotype correlation; Microdeletions; Neurofibromatosis type 1; NHEJ; Non recurrent breakpoints

Indexed keywords

ACCN1 GENE; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME BREAKAGE; CHROMOSOME MAP; FEMALE; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; NEUROFIBROMA; NEUROFIBROMATOSIS; NF1 GENE; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN TUMOR; TUMOR GROWTH;

EID: 40449142781     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32045     Document Type: Article

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