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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R.
Affiliation
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Aydin H; Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
  • Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Bilge Geckinli B; Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
  • Karaman A; Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Gibbs RA; 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA.
Eur J Hum Genet ; 22(9): 1145-8, 2014 Sep.
Article in En | MEDLINE | ID: mdl-24424126
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Membrane Proteins / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: United States Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Membrane Proteins / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: United States Country of publication: United kingdom