A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.
Resource Type
Academic Journal
Authors
Andoni T; North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow.; Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter.; Kapadia J; Neonatal Intensive Care Unit, Luton and Dunstable University Hospital, Luton, UK.; Wakeling E; North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow.
Source
Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE