Carney-Stratakis Syndrome Caused by a Novel SDHD Mutation

Carney-Stratakis Syndrome Caused by a Novel SDHD Mutation

ABSTRACT: Objective: To raise awareness of the clinical presentation and genetic features of Carney-Stratakis syndrome (CSS) and demonstrate the importance of multimodality imaging in such patients.Method: A case report of an unusual case of CSS due to a novel succinate dehydrogenase D (SDHD) mutati...

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Main Authors: Chiaw Ling Chng, MB BS, MRCP, FAMS, Soha El Sheikh, MBChB, FRCPath, PhD, Martyn Caplin, BSc (HONS), DM, FRCP, Daryll Baker, BSc, PhD, BM, Bch, FRCS, FRCS, Bernard Khoo, MB BChir, PhD, MRCP
Format: Article
Language:English
Published: Elsevier 2015-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S237606052030362X

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http://www.sciencedirect.com/science/article/pii/S237606052030362X

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