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Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
Lieber, Daniel S; Hershman, Steven G; Slate, Nancy G; Calvo, Sarah E; Sims, Katherine B; Schmahmann, Jeremy D; Mootha, Vamsi K.
Affiliation
  • Schmahmann JD; Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital & Harvard Medical School, Boston, MA 02114 USA, jschmahmann@partners.org
BMC Med Genet ; 15: 30, 2014 Mar 06.
Article in En | MEDLINE | ID: mdl-24602372
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Abnormalities, Multiple / Mitochondrial Diseases / Peroxisomal Multifunctional Protein-2 / Hearing Loss, Sensorineural Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Abnormalities, Multiple / Mitochondrial Diseases / Peroxisomal Multifunctional Protein-2 / Hearing Loss, Sensorineural Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Country of publication: