Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3
Paternoster, Lionel, Soblet, Julie, Aeby, Alec, De Tiège, Xavier, Goldman, Serge, Yue, Wyatt W., Coppens, Sandra, Smits, Guillaume, Vilain, Catheline, Deconinck, NicolasJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61805
Date:
August, 2020
File:
PDF, 2.51 MB
2020
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