Am J Med Genet A 2015 Oct 19;167A(10):2425-9. Epub 2015 Jun 19.
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Download full-text PDF
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 2012 Apr 14;158A(4):856-60. Epub 2012 Mar 14.
Dipartimento di Pediatria, Università degli Studi di Napoli Federico II, Napoli, Italy.
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated with growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. 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 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