Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management

Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management

Abstract Background This study aims to identify a pathogenic SDHD mutation associated with hereditary head and neck paraganglioma (HNPGL) in a Chinese family and to explore its implications for genetic counseling. Methods The study involved a family with 15 members spanning three generations. A 31-y...

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Bibliographic Details
Main Authors: Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia
Format: Article
Language:English
Published: BMC 2025-01-01
Series:World Journal of Surgical Oncology
Subjects:
SDHD mutation
Hereditary head and neck paraganglioma
Genetic counseling
Family study
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12957-024-03641-w
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