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Carney complex and McCune Albright syndrome: An overview of clinical manifestations and human molecular genetics

✍ Scribed by Salpea, Paraskevi; Stratakis, Constantine A.


Book ID
121450459
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
606 KB
Volume
386
Category
Article
ISSN
0303-7207

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Molecular genetics recently uncovered the mystery of the protean picture of McCune-Albright syndrome by identification of the somatic gain of function mutations in the GNAS1 gene. Here we present an adult patient with fibrous dysplasia and an endocrinopathy resulting in unusual giant height. The cli