Maria Elena Romero-Ibarguengoitia Consuelo Cantú-Reyna Dalia Gutierrez-González Héctor Cruz-Camino Arnulfo González-Cantú Miguel Angel Sanz Sánchez
10.1177/2324709620957777
J Investig Med High Impact Case Rep
2020 Jan-Dec;8:2324709620957777.
otud6b abnormalities intellectual disability seizures whole-exome sequencing
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/32924626/
Abnormalities, Multiple / genetics Endopeptidases / genetics Intellectual Disability / genetics
Abnormalities, Multiple / genetics Endopeptidases / genetics Intellectual Disability / genetics Case Reports Child Exome Sequencing Genetic Variation Homozygote Humans Male Mexico Seizures / genetics Endopeptidases OTUD6B protein, human
PMC7493228
32924626
Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case
2020