Article
Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance.
Journal of endocrinological investigation - 1 May 2007
Walton-Betancourth S, Martinelli C E, Thalange N K, Dyke M P, Acerini C L, White S, Camacho-Hübner C, Savage M O
Abstract excerpt
We report a child with Noonan syndrome, referred with severe short stature (height--5.4 SD) and biochemical features of GH resistance. The Noonan syndrome phenotype was confirmed by a clinical geneticist, however analysis of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene showe...
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