Article
PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.
The Journal of clinical endocrinology and metabolism - 1 Sept 2005
Binder G, Neuer K, Ranke M B, Wittekindt N E
Abstract excerpt
CONTEXT: Noonan syndrome is frequently associated with an unclear disturbance of GH secretion. Half the individuals with Noonan syndrome carry a heterozygous mutation of the nonreceptor-type protein tyrosine phosphatase, Src homology region 2-domain phosphatase-2 (SHP-2), encoded by PTPN11, which has a role in GH receptor signaling. OBJECTIVE: The objective of this study was to compare GH secretion and...
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