Article
Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.
Hormone research - 1 Jan 2008
Padidela Raja, Camacho-Hübner Cecilia, Attie Kenneth M, Savage Martin O
Abstract excerpt
Noonan syndrome (NS) is a phenotypically heterogeneous syndrome which is frequently associated with short stature. Recent genetic investigations have identified mutations in five genes, namely PTPN11, KRAS, SOS1, NF1 and RAF1 in patients with the NS phenotype. PTPN11 is the commonest, being present in approximately 50% of cases. The degree of short stature in children does not associate closely with the presence...
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