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Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Webb, Bryn D; Wheeler, Patricia G; Hagen, Jacob J; Cohen, Ninette; Linderman, Michael D; Diaz, George A; Naidich, Thomas P; Rodenburg, Richard J; Houten, Sander M; Schadt, Eric E.
Afiliação
  • Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Wheeler PG; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Hagen JJ; Icahn Institute for Genomics and Multi-Scale Biology, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Cohen N; Department of Pediatrics, Division of Genetics, Nemours Children's Clinic, Orlando, Florida.
  • Linderman MD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Naidich TP; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Rodenburg RJ; Icahn Institute for Genomics and Multi-Scale Biology, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Schadt EE; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.
Hum Mutat ; 36(6): 587-92, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25754315
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Polimorfismo de Nucleotídeo Único / Estudos de Associação Genética / Transtornos do Crescimento / Perda Auditiva Neurossensorial / Heterozigoto / Metionina tRNA Ligase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Polimorfismo de Nucleotídeo Único / Estudos de Associação Genética / Transtornos do Crescimento / Perda Auditiva Neurossensorial / Heterozigoto / Metionina tRNA Ligase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article