Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene-Reference-Cited by-同舟云学术

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene

Published:2021-12-05 Issue:2 Volume:101 Page:233-241
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Marco‐Hernández Ana Victoria¹²^ORCID,Tomás‐Vila Miguel³,Montoya‐Filardi Alejandro⁴,Barranco‐González Honorio⁵,Vilchez Padilla Juan Jesus⁶,Azorín Inmaculada⁶,Smeyers Dura Patricia³,Monfort‐Membrado Sandra²,Pitarch‐Castellano Inmaculada³^ORCID,Martínez‐Castellano Francisco¹²

Affiliation:

1. Genomics Unit, La Fe Health Research Institute Valencia Spain

2. Genetics Unit, Hospital Universitari i Politècnic La Fe Valencia Spain

3. Neuropediatrics Section, Hospital Universitari i Politècnic La Fe Valencia Spain

4. Radiology Service, Hospital Universitari i Politècnic La Fe Valencia Spain

5. Oftalmology Service, Hospital Universitari i Politècnic La Fe Valencia Spain

6. Neuromuscular Pathology Laboratory, Health Research Institute La Fe; CIBERER. European Reference for rare Neuromuscular Diseases Valencia Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject