Article
Autoimmune liver disease in Noonan Syndrome.
European journal of medical genetics - 1 Mar 2015
Loddo Italia, Romano Claudio, Cutrupi Maria Concetta, Sciveres Marco, Riva Silvia, Salpietro Annamaria, Ferraù Valeria, Gallizzi Romina, Briuglia Silvana
Abstract excerpt
Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor...
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