HINT1 neuropathy: Expanding the genotype and phenotype spectrum

Morel, V; Campana-Salort, E; Boyer, A; Esselin, F; Walther-Louvier, U; Querin, G; Latour, P; Lia, AS; Magdelaine, C; Beze-Beyrie, P; Behin, A; Delague, V; Levy, N; Stojkovic, T; Attarian, S; Bonello-Palot, N

Bonello-Palot, N (通讯作者)，CHU Timone, AP HM, Dept Genet Med, Marseille, France.

CLINICAL GENETICS, 2022; 102 (5): 379

Abstract

Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cas......

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