A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face-MedSci.cn - 梅斯（MedSci）

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face

Miyake, N; Silva, S; Troncoso, M; Okamoto, N; Andachi, Y; Kato, M; Iwabuchi, C; Hirose, M; Fujita, A; Uchiyama, Y; Matsumoto, N

Miyake, N; Matsumoto, N (通讯作者)，Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan.

CLINICAL GENETICS, 2022; 101 (3): 359

Abstract

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness and spasticity......

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