A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia

Bibliographic Details
Title: A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
Authors: Mavillard, Fabiola a, b, 1, Guerra-Castellano, Alejandra c, 1, Guerrero-Gómez, David d, Rivas, Eloy e, Cantero, Gloria a, b, Servian-Morilla, Emilia a, b, Folland, Chiara f, Ravenscroft, Gianina f, Martín, Miguel A. g, h, Miranda-Vizuete, Antonio d, Cabrera-Serrano, Macarena a, b, Diaz-Moreno, Irene c, ⁎, Paradas, Carmen a, b, ⁎⁎
Source: In BBA - Molecular Basis of Disease October 2024 1870(7)
Database: ScienceDirect
More Details
ISSN:09254439
DOI:10.1016/j.bbadis.2024.167330
Published in:BBA - Molecular Basis of Disease
Language:English