Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 652-658

  Pauli, Silke ^a   Steinemann, Doris ^b   Dittmann, Kai ^a   Wienands, Jürgen ^a   Shoukier, Moneef ^a   Möschner, Marita ^a   Burfeind, Peter ^a   Manukjan, Georgi ^b   Göhring, Gudrun ^b   Escherich, Gabriele ^c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Acute lymphoblastic leukemia; Juvenile myelomonocytic leukemia; Noonan syndrome; PTPN11; Uniparental disomy

Indexed keywords

AZATHIOPRINE; GENOMIC DNA; MERCAPTOPURINE; METHOTREXATE; PROTEIN TYROSINE PHOSPHATASE SHP 2; STEROID;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; CYTOGENETICS; DISEASE PREDISPOSITION; DNA EXTRACTION; DRUG MEGADOSE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTPN11 GENE; REMISSION; SEQUENCE ANALYSIS; SHORT STATURE; UNIPARENTAL DISOMY;

COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; INFANT; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; NOONAN SYNDROME; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 84857109168     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34439     Document Type: Article

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