adrenal gland diseases

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lianshu Han, Yongguo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu

Journal of Medical Genetics Jan 2024, 61 (1) 27-35; DOI: 10.1136/jmg-2022-108952
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
Jean Pierre Bayley, Birke Bausch, Jeroen C Jansen, Erik F Hensen, Karin van der Tuin, Eleonora PM Corssmit, Peter Devilee, Hartmut PH Neumann

Journal of Medical Genetics Jan 2023, 60 (1) 25-32; DOI: 10.1136/jmedgenet-2020-107656
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
Laurene Ben Aim, Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon

Journal of Medical Genetics Aug 2022, 59 (8) 785-792; DOI: 10.1136/jmedgenet-2020-107652

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