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.
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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.
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. Read More
J Hum Genet 2010 Dec 30;55(12):801-9. Epub 2010 Sep 30.
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai, Miyagi, Japan.
Noonan syndrome is an autosomal dominant disease characterized by dysmorphic features, webbed neck, cardiac anomalies, short stature and cryptorchidism. It shows phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Noonan syndrome and related disorders are caused by germline mutations in genes encoding molecules in the RAS/MAPK pathway. Read More
Pediatr Neurol 2015 Mar 3;52(3):352-5. Epub 2014 Dec 3.
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. Electronic address:
Background: Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. Read More
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