Report for Andachi Y

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References (1)

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

Report for Andachi Y

General

References (1)

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