Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients
Sign Up to like & getrecommendations! Published in 2018 at "Indian Journal of Dermatology, Venereology and Leprology"
DOI: 10.4103/ijdvl.ijdvl_414_17
Abstract: Here, we report two patients with novel mutations in the SLCO2A1 gene. Patient 1 was a 23‐year‐old male patient who attended the dermatology clinic with a 10‐year history of severe acne and hyperseborrhea. On physical… read more here.
Keywords: report two; primary hypertrophic; slco2a1 gene; dermatology ... See more keywords
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Biological Sciences"
DOI: 10.7150/ijbs.71261
Abstract: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease mainly affecting the skeletal and skin. Two genes involved in prostaglandin degradation are known to be responsible for PHO: HPGD and SLCO2A1. HPGD gene mutation can… read more here.
Keywords: hpgd mutations; clinical biochemical; primary hypertrophic; phoar1 patients ... See more keywords