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Molecular evidence of type 2 mosaicism in Gorlin syndrome

✍ Scribed by Torrelo, A.; Hernández-Martín, A.; Bueno, E.; Colmenero, I.; Rivera, I.; Requena, L.; Happle, R.; González-Sarmiento, R.


Book ID
120532281
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
264 KB
Volume
169
Category
Article
ISSN
0007-0963

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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