Supplementary Material for: Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype

Supplementary Material for: Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype

Introduction: Nephronophthisis (NPHP) is an autosomal recessive kidney disease resulting mainly from primary cilium defects, with unspecific and variable symptoms that can progress to kidney failure needing replacement therapy at a young age. Currently, up to 64% of likely NPHP cases can be diagnose...

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Tác giả khác: Claus L.R. (22688156) (author), Snoek R. (6706535) (author), Faber S. (22688159) (author), Roskothen-Shevchuk A.J.C. (22688162) (author), SendinoGarví E. (22688165) (author), Peters E.D.J. (22688168) (author), Savelberg S.M.C. (22688171) (author), Duran K. (22688174) (author), vanderZwaag B. (6706541) (author), Nguyen T.Q. (6706538) (author), Broekhuizen R. (3627590) (author), Brummelhuis W.J. (22688177) (author), Rookmaaker M. (22688180) (author), vanderVeen S.W. (22688183) (author), Elferink M.G. (22688186) (author), Karras A. (22688189) (author), Raymond L. (18140335) (author), Mousseaux C. (22688192) (author), Sadeghi-Alavijeh O. (22688195) (author), Sayer J.A. (18111703) (author), Olinger E. (22688198) (author), Neatu R. (22688201) (author), Klämbt V. (22688204) (author), Stokman M.F. (22688207) (author), Knoers N.V.A.M. (4762071) (author), Tessadori F. (22688210) (author), Gale D.P. (14712979) (author), Boldt K. (22688213) (author), Ueffing M. (22688216) (author), Slaats G.G. (22688219) (author), Roepman R. (22688222) (author), Hildebrandt F. (4216183) (author), Mesnard L. (18140347) (author), vanHaaften G. (22688225) (author), vanEerde A.M. (6706556) (author)
Được phát hành: 2025
Những chủ đề:
Medicine
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