Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
ADAMTS15基因的双等位基因变异导致一种新型的远端关节挛缩症
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2022.07.012
Boschann, Felix; Cogulu, Muhsin Ö; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M; Hansmeier, Nils R; Coban Akdemir, Zeynep H; Prada-Medina, Cesar A; Aykut, Ayca; Fischer-Zirnsak, Björn; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Hägerling, René; Posey, Jennifer E; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R; Kornak, Uwe; Schmidt, Julia