P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis
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چکیده
منابع مشابه
P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis
Introduction Autosomal recessive primary hypertrophic osteoathropathy (PHO), also known as pachydermoperiostosis (PDP), is a rare genetic disease characterized by clubbing of the fingers, arthritis, periostosis and pachydermia and results from mutations in 15-hydroxyprostaglandin dehydrogenase (HPGD). Recessive mutations in 15-hydroxyprostaglandin dehydrogenase in PHO subjects. has been identif...
متن کاملA novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
OBJECTIVES Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary hypertrophic osteoarthropathy (PHO). So far, only 7 HPGD alterations are known. In order to expand this mutational spectrum and better delineate the HPGD-related phenotype, we report the clinical and molecular characterisation of a 13-year-old boy and compare ...
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Case report A 23-year-old female was diagnosed for FMF in 2002 after a 3-year course of recurrent atypical attacks. Administration of colchicine 1mg was started and symptoms improved. In 2005 she developed fever and epilepsy. CT-scans demonstrated splenic and cerebral lesions of uncertain etiology. Autoantibodies tests were negative. Infectious diseases were ruled out and therapy with steroids ...
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Introduction Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous, recurrent uveitis, dermatitis and symmetric arthritis. The arthritis is usually a polyarticular exuberant synovitis and tenosynovitis and represents the characteristic phenotypic feature. Uveitis occurs in most patients and commonly evolves to a panuveiti...
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I. Height allometries Since 1999, FIA data include height measurements. However, pre-1999 FIA data (which currently comprise most of the available plot re-measurements) do not include height data for most of the U.S. Therefore, incorporating tree height into analyses of pre-1999 FIA data requires height-dbh allometries, which we estimated using the post-1999 FIA data. Because we wished to treat...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a218