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The New England journal of medicine, ISSN 1533-4406, 2009, Volume 361, Issue 19, pp. 1872 - 1885
Journal Article
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2011, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder... 
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
Journal Article
Journal Article