Open AccessClinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation
Author(s) -
Т. В. Кожанова,
С. С. Жилина,
Tatiana I. Meshcheryakova,
N. P. Prokopyeva,
А. Г. Притыко,
N. N. Zavadenko
Publication year - 2022
Publication title -
èpilepsiâ i paroksizmalʹnye sostoâniâ
Language(s) - English
Resource type - Journals
eISSN - 2311-4088
pISSN - 2077-8333
DOI - 10.17749/2077-8333/epi.par.con.2022.112
Subject(s) - arthrogryposis , proband , chromosomal translocation , exome sequencing , epilepsy , chromosome , dystonia , genetics , medicine , biology , bioinformatics , mutation , gene , neuroscience