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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla, Aamuktha R; Pinard, Amélie; Boerio, Maura L; Hemelsoet, Dimitri; Tavernier, Simon J; De Pauw, Michel; Vereecke, Elke; Fraser, Stuart; Bamshad, Michael J; Guo, Dongchuan; Callewaert, Bert; Milewicz, Dianna M.
Affiliation
  • Karla AR; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Pinard A; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Boerio ML; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium.
  • Tavernier SJ; Department of Internal Medicine and Pediatrics, Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.
  • De Pauw M; Department of Cardiology, Ghent University Hospital, Ghent, Belgium.
  • Vereecke E; Department of Radiology, Ghent University Hospital, Ghent, Belgium.
  • Fraser S; Division of Child Neurology, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
  • Milewicz DM; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Am J Med Genet A ; 194(4): e63486, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38041217
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Autoimmune Diseases of the Nervous System / Moyamoya Disease / Nervous System Malformations Limits: Adult / Child / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Autoimmune Diseases of the Nervous System / Moyamoya Disease / Nervous System Malformations Limits: Adult / Child / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2024 Document type: Article Affiliation country: Estados Unidos