Article
Noonan syndrome: relationships between genotype, growth, and growth factors.
The Journal of clinical endocrinology and metabolism - 1 Jan 2006
Limal Jean-Marie, Parfait Béatrice, Cabrol Sylvie, Bonnet Damien, Leheup Bruno, Lyonnet Stanislas, Vidaud Michel, Le Bouc Yves
Abstract excerpt
CONTEXT: Half of the patients with Noonan syndrome (NS) carry mutation of the PTPN11 gene, which plays a role in many hormonal signaling pathways. The mechanism of stunted growth in NS is not clear. OBJECTIVE: The objective of the study was to compare growth and hormonal growth factors before and during recombinant human GH therapy in patients with and without PTPN11 mutations (M+ and M-). SETTING, DESIGN, AND...
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