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Title : A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face - Miyake_2021_Clin.Genet__ |
Author(s) : Miyake N , Silva S , Troncoso M , Okamoto N , Andachi Y , Kato M , Iwabuchi C , Hirose M , Fujita A , Uchiyama Y , Matsumoto N |
Ref : Clin Genet , : , 2021 |
Abstract : Miyake_2021_Clin.Genet__ |
ESTHER : Miyake_2021_Clin.Genet__ |
PubMedSearch : Miyake_2021_Clin.Genet__ |
PubMedID: 34866177 |
Gene_locus related to this paper: human-ABHD16A |