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Novel Genetic Mutation in the Background of Carney Complex

✍ Scribed by Csaba Halászlaki; István Takács; Henriett Butz; Attila Patócs; Péter Lakatos

Book ID
113100521
Publisher
Springer Netherlands
Year
2012
Tongue
English
Weight
215 KB
Volume
18
Category
Article
ISSN
1219-4956

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✍ Goldstein, Marsha M.; Casey, Mairead; Carney, J. Aidan; Basson, Craig T. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

We describe an individual in whom molecular genetic testing provided a diagnosis of the Carney complex, an autosomal dominant syndrome comprising cutaneous and cardiac myxomas, spotty pigmentation of the skin, and endocrinopathy. Recently, we localized the Carney complex disease gene to chromosome r