Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

American Journal of Medical Genetics

Volumn 134 A, Issue 2, 2005, Pages 165-170

  Jongmans, Marjolijn ^a   Sistermans, Erik A ^a   Rikken, Alwin ^a   Nillesen, Willy M ^a   Tamminga, Rienk ^b   Patton, Michael ^c   Maier, Esther M ^d   Tartaglia, Marco ^e,f   Noordam, Kees ^a   Van Der Burgt, Ineke ^a,g  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

C SH2 domain; Juvenile myelomonocytic leukemia (JMML); Noonan syndrome; PTPN11

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2;

ADULT; AUTOSOMAL DOMINANT DISORDER; CANCER RISK; CHILD; CHROMOSOME 12; CONGENITAL HEART MALFORMATION; FACE MALFORMATION; FEMALE; GENE; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MORPHOLOGICAL TRAIT; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PRIORITY JOURNAL; PROTEIN DOMAIN; PTPN11 GENE; REVIEW; SCORING SYSTEM; SHORT STATURE;

ADULT; CHILD; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NOONAN SYNDROME; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE; REVIEW LITERATURE; SRC HOMOLOGY DOMAINS;

GENETTA; STAPHYLOCOCCUS PHAGE 187;

EID: 20144389353     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30598     Document Type: Review

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