McCune-Albright syndrome is characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait spots on the skin, and peripheral precocious puberty. It is caused by gain-of-function genetic variants in the GNAS gene. They are present in mosaic since a mutation occurs in the first stages of embryonic development, affecting different tissues but not the entire organism. This is because recurrent mutations are considered lethal during embryonic life when they affect the whole organism.
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