Newly identified biallelic YRDC variant causes developmental disorder with features of premature ageing
Biallelic variants in YRDC cause a developmental disorder with progeroid features
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B.
Hum Genet. 2021 Sep 20. doi: 10.1007/s00439-021-02347-3. Epub ahead of print.