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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Wood, Katherine A; Ellingford, Jamie M; Thomas, Huw B; Douzgou, Sofia; Beaman, Glenda M; Hobson, Emma; Prescott, Katrina; O'Keefe, Raymond T; Newman, William G.
Affiliation
  • Wood KA; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Ellingford JM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Hobson E; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
  • Prescott K; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • O'Keefe RT; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
Clin Genet ; 101(2): 255-259, 2022 02.
Article in En | MEDLINE | ID: mdl-34713892
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Choanal Atresia / Ribonucleoprotein, U5 Small Nuclear / Deafness / Genotype / Heart Defects, Congenital / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Choanal Atresia / Ribonucleoprotein, U5 Small Nuclear / Deafness / Genotype / Heart Defects, Congenital / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Country of publication: