논문KCI 등재
Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea
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참고문헌 (10)
- Castori M, "Pachydermoperiostosis : an update", Clin Genet, 68, pp.477~486 (2005)
- Zhang Z, "Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy", Am J Hum Genet, 90, pp.125~132 (2012)
- Uppal S, "Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy", Nat Genet, 40, pp.789~793 (2008)
- Li SS, "Clinical, biochemical, and genetic features of 41 Han Chinese families with primary hypertrophic osteoarthropathy, and their therapeutic response to etoricoxib : results from a six-month prospective clinical intervention", J Bone Miner Res, 32, pp.1659~1666 (2017)
- Kim HJ, "Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family", J Dermatol, 42, pp.655~657 (2015)
- 이시훈, "Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis", Journal of Korean Medical Science, 31(5), pp.735~742 (2016), 대한의학회
- Tüysüz B, "Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family : changing clinical and radiological findings with long-term follow-up", Rheumatol Int, 34, pp.1539~1544 (2014)
- Erken E, "A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy", Mod Rheumatol, 25, pp.315~321 (2015)
- Yuan L, "A common mutation and a novel mutation in the HPGD gene in nine patients with primary hypertrophic osteoarthropathy", Calcif Tissue Int, 97, pp.336~342 (2015)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
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