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Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
Ucar, Sema Kalkan; Mayr, Johannes A; Feichtinger, René G; Canda, Ebru; Çoker, Mahmut; Wortmann, Saskia B.
Affiliation
  • Ucar SK; Division of Metabolic Disease, Ege University Medical Faculty, Department of Pediatrics, Izmir, 35100, Turkey. sema.kalkan.ucar@ege.edu.tr.
  • Mayr JA; Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Feichtinger RG; Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Canda E; Division of Metabolic Disease, Ege University Medical Faculty, Department of Pediatrics, Izmir, 35100, Turkey.
  • Çoker M; Division of Metabolic Disease, Ege University Medical Faculty, Department of Pediatrics, Izmir, 35100, Turkey.
  • Wortmann SB; Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria.
JIMD Rep ; 35: 39-45, 2017.
Article in En | MEDLINE | ID: mdl-27928778
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: JIMD Rep Year: 2017 Document type: Article Affiliation country: Turkey Country of publication: United States
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: JIMD Rep Year: 2017 Document type: Article Affiliation country: Turkey Country of publication: United States