ARF1-related disorder: phenotypic and molecular spectrum

Agathe, JMD; Pode-Shakked, B; Naudion, S; Michaud, V; Arveiler, B; Fergelot, P; Delmas, J; Keren, B; Poirsier, C; Alkuraya, FS; Tabarki, B; Bend, E; Davis, K; Bebin, M; Thompson, ML; Bryant, EM; Wagner, M; Hannibal, I; Lenberg, J; Krenn, M; Wigby, KM; Friedman, JR; Iascone, M; Cereda, A; Miao, TRC; LeGuern, E; Argilli, E; Sherr, E; Caluseriu, O; Tidwell, T; Bayrak-Toydemir, P; Hagedorn, C; Brugger, M; Vill, K; Morneau-Jacob, FD; Chung, WY; Weaver, KN; Owens, JW; Husami, A; Chaudhari, BP; Stone, BS; Burns, K; Li, RC; de Lange, IM; Biehler, M; Ginglinger, E; Gérard, B; Stottmann, RW; Trimouille, A

Agathe, JMD (通讯作者)，Sorbonne Univ, Fac Med, Dept Med Genet, F-75013 Paris, France.

JOURNAL OF MEDICAL GENETICS, 2023; 60 (10): 999

Abstract

PurposeARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation ......

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