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Current Opinion in Genetics & Development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial... 
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
Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma, 12/2000
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself.... 
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
Journal
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Journal Article
Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 808 - 812
Journal Article
Journal Article