Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy
Author:
Affiliation:
1. Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4310
Reference41 articles.
1. Pachydermoperiostosis: an update
2. Mutations in theSLCO2A1Gene and Primary Hypertrophic Osteoarthropathy: A Clinical and Biochemical Characterization
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5. Pachydermoperiostosis (Idiopathic Clubbing and Periostosis)
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2. Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review;American Journal of Medical Genetics Part A;2023-11
3. Primary hypertrophic osteoarthropathy: genetics, clinical features and management;Frontiers in Endocrinology;2023-08-29
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5. A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly;Bone Reports;2023-06
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