Yuksel-Konuk, BerrinSirmaci, AsliAyten, Guelen EceOzdemir, MustafaAslan, IdilYilmaz-Turay, UelkueErdogan, Yurdanur2020-03-262020-03-2620090172-81721437-160Xhttps://dx.doi.org/10.1007/s00296-009-0895-6https://hdl.handle.net/20.500.12395/23589Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population.en10.1007/s00296-009-0895-6info:eu-repo/semantics/closedAccessAutosomal recessiveConsanguinity15-Hydroxyprostaglandin dehydrogenase genePrimary hypertrophic osteoarthropathyArticle301394319306095Q2WOS:000271989400005Q3