Noonan syndrome and related disorders: Genetics and pathogenesis

Annual Review of Genomics and Human Genetics

Volumn 6, Issue , 2005, Pages 45-68

  Tartaglia, Marco ^a   Gelb, Bruce D ^b  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

PTPN11; SHP 2; Signal transduction

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; AUTOSOMAL DOMINANT DISORDER; CLONING; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; FACE DYSMORPHIA; GENE; GENE MUTATION; GENETIC DISORDER; GERM LINE; HEMATOLOGIC MALIGNANCY; HUMAN; JUVENILE MYELOMONOCYTIC LEUKEMIA; LEOPARD SYNDROME; MULTIPLE GIANT CELL LESION SYNDROME; NONHUMAN; NOONAN SYNDROME; PATHOGENESIS; PTPN11 GENE; REVIEW; SHORT STATURE; SOMATIC MUTATION; WEBBED NECK;

ANIMALS; FEMALE; GENOTYPE; HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEUKEMIA; LINKAGE (GENETICS); MALE; MICE; MODELS, MOLECULAR; MUTATION; NOONAN SYNDROME; PATERNAL AGE; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 18444401014     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.6.080604.162305     Document Type: Review

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