论文信息 - Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome‐like phenotype and hypogammaglobulinemia - 字舞流文

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome‐like phenotype and hypogammaglobulinemia

G. Vriend | R. Pfundt | T. Rinne | H. van Bokhoven | Huiqing Zhou | H. Venselaar | C. Carels | E. Sokal | C. Ockeloen | N. Revencu | B. Brichard | M. Bloemen | E. van Beusekom | C. Boulanger | K. D. Khandelwal