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D Pelnena

Explore the profile of D Pelnena including associated specialties, affiliations and a list of published articles. Areas
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Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, et al.
Clin Genet . 2018 May; 95(1):63-78. PMID: 29722015
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by...