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