Am J Med Genet A 2014 Dec 20;164A(12):3120-5. Epub 2014 Oct 20.
Department of Paediatrics, University of Torino, Torino, Italy.
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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
Ital J Pediatr 2012 Sep 20;38:48. Epub 2012 Sep 20.
Department of Pediatrics, Federico II University of Naples, Naples, Italy.
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Read More
Am J Med Genet A 2013 Nov 3;161A(11):2756-61. Epub 2013 Oct 3.
Pediatric Endocrinology and Rare Diseases, Department of Pediatrics, S.Orsola-Malpighi University Hospital - University of Bologna, Bologna, Italy.
Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the clinical features are more severe than those generally observed in NS, even though the phenotype improves with age. Read More
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