Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea

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Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea

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article

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wetenschappelijk artikel

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наукова стаття, опублікована в січні 2019

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Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

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Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

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Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

@en

Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

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Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

@en

Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

@nl

P1476

Compound Heterozygous Pathogen ...... thropathy: First Case in Korea

@en

P2093

Ahra Cho

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Ji Hyun Yang

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Mi Ra Ryu

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P2860

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

Pachydermoperiostosis: an update

Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy

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.

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.

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.

A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.

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105-108

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scholarly article

case report

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10.3343/ALM.2019.39.1.105

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English

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P478

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Sang Youl Rhee

Chang-Seok Ki

Seong Yoon Kim

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2019-01-01T00:00:00Z

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P698

30215240

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6143462

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