Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital

Regan-Fendt, KE; Rippert, AL; Medne, L; Skraban, CM; DeJesse, J; Gray, C; Reichert, SL; Staropoli, NP; Santos, FJR; Krantz, ID; Murrell, JR; Izumi, K

Izumi, K (通讯作者)，Univ Texas Southwestern Med Ctr, Dept Pediat, Div Genet & Metab, 5323 Harry Hines Blvd, Dallas, TX 75390 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023; 191 (8): 2149

Abstract

SRRM2-related neurodevelopmental disorder is a recently described genetic diagnosis caused by loss-of-function variants in SRRM2. In order to understa......

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