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pro vyhledávání: '"Mariam Ghareeb Al Mansoori"'
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p. Arg97Cys) presenting with joint swe
Externí odkaz:
https://doaj.org/article/cb0d8adee78c475db6e83b5e1b2b785a