Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort
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Background: McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfunctioning... ...
