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Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.
Faily, Sara; Perveen, Rahat; Urquhart, Jill; Chandler, Kate; Clayton-Smith, Jill.
Affiliation
  • Faily S; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom. Electronic address: sara.faily@doctors.org.uk.
  • Perveen R; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom.
  • Urquhart J; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom.
  • Chandler K; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, M13 9PL, United Kingdom.
Eur J Med Genet ; 60(10): 527-532, 2017 Oct.
Article in En | MEDLINE | ID: mdl-28711741
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Orofaciodigital Syndromes / Phenotype / RNA Helicases / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Orofaciodigital Syndromes / Phenotype / RNA Helicases / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Country of publication: