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...
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 |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2015-01-01
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Series: | AACE Clinical Case Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S237606052030362X |
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