Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1
由于 POLD1 基因出现新变异而导致的 MDPL 综合征的儿童至成年期临床描述
期刊:European Journal of Medical Genetics
影响因子:1.6
doi:10.1016/j.ejmg.2021.104333
Battisti Gladys, Wintjens René, Decottignies Anabelle, Merhi Ahmad, Fervaille Caroline, Sokal Etienne, Karadurmus Deniz, Benoit Valerie, Claessens Anick, Martinet Jean-Paul, Martiat Benoît, Kinzinger Philippe, Maystadt Isabelle
