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McCune-Albright syndrome: Clinical and molecular evidence of mosaicism in an unusual giant patient

✍ Scribed by Tinschert, Sigrid; Gerl, Helga; Gewies, Andreas; Jung, Hans-Peter; N�rnberg, Peter

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 57 KB
Volume: 83
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990312)83:2<100::aid-ajmg5>3.0.co;2-k

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✦ Synopsis

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 clinical diagnosis in the patient could be confirmed by molecular investigations in tissues involved in the process of fibrous dysplasia. Am. J. Med. Genet. 83:100-108, 1999.

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