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A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
Hancarova, Miroslava; Babikyan, Davit; Bendova, Sarka; Midyan, Susanna; Prchalova, Darina; Shahsuvaryan, Gohar; Stranecky, Viktor; Sarkisian, Tamara; Sedlacek, Zdenek.
Affiliation
  • Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  • Bendova S; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Midyan S; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  • Prchalova D; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Shahsuvaryan G; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  • Stranecky V; Department of Pediatrics and Adolescent Medicine, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Sarkisian T; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  • Sedlacek Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Mol Genet Genomic Med ; 7(9): e865, 2019 09.
Article in En | MEDLINE | ID: mdl-31334606
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Consanguinity / Intracellular Signaling Peptides and Proteins / Genes, Recessive / Intellectual Disability Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child, preschool / Humans / Male Country/Region as subject: Europa Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Consanguinity / Intracellular Signaling Peptides and Proteins / Genes, Recessive / Intellectual Disability Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child, preschool / Humans / Male Country/Region as subject: Europa Language: En Journal: Mol Genet Genomic Med Year: 2019 Document type: Article