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A syndrome caused by activating somatic mutation(s) in the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This syndrome is characterized most commonly by irregular (coast of Maine) cafe-au-lait skin pigmentation, polyostotic fibrous dysplasia, and gonadotropin-independent precocious puberty due to primary gonadal hyperfunction. Other clinical features may include hyperthyroidism, goiter, thyroid nodules, hyperadrenocorticolism, growth hormone excess, and phosphate wasting.
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