Am J Med Genet A 2016 Sep 5;170(9):2237-47. Epub 2016 Jun 5.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
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Am J Med Genet A 2017 Mar;173(3):824-828
Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Read More
Am J Med Genet A 2013 Oct 5;161A(10):2420-30. Epub 2013 Aug 5.
Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal abnormalities, and learning differences. The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia. The recently identified SHOC2 mutation (p. Read More
Am J Med Genet A 2017 02 21;173(2):565-567. Epub 2016 Nov 21.
Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.
Am J Med Genet A 2014 May 23;164A(5):1218-21. Epub 2014 Jan 23.
Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. Read More