Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Mucca, MA; Patat, O; Whalen, S; Arnaud, L; Barcia, G; Buratti, J; Cogne, B; Doummar, D; Karsenty, C; Kenis, S; Leguern, E; Lesca, G; Nava, C; Nizon, M; Piton, A; Valence, S; Villard, L; Weckhuysen, S; Keren, B; Mignot, C

Patat, O (通讯作者)，Univ Hosp Ctr Toulouse, Dept Med Genet, F-31300 Toulouse, Midi Pyrenees, France.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (5): 505

Abstract

De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zim......

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