Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p67 | (1) | ICCBH2015

McCune-Albright Syndrome in three patients, clinical correlation and spectrum of the disease

Lammoglia Juan , Mejia Liliana , Boric Angelica

Introduction: Albright-McCune Sternberg syndrome (SAMS) is a rare disorder which originates in a germinal mutation of gene GNAS1, which codifies the alpha subunit of protein G (Gsa). It is characterized by a typical phenotype which includes polyostotic fibrodysplasia, precocious puberty independent from gonadotropins, cafe-au-lait spots and a series of endocrine abnormalities. The most common mutations include a cysteine or histidine for arginine substitution in codon 201 of e...