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A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.
Sumathipala, Dulika S; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H; Frengen, Eirik; Strømme, Petter.
Affiliation
  • Sumathipala DS; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
  • Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
  • Larsen SM; Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.
  • Barøy T; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
  • Gamage TH; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo.
  • Strømme P; Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.
Clin Dysmorphol ; 29(2): 107-110, 2020 Apr.
Article in En | MEDLINE | ID: mdl-31929336
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Thumb / Transcription Factors / DNA-Binding Proteins / Neurodevelopmental Disorders / Homozygote / Mutation Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2020 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Thumb / Transcription Factors / DNA-Binding Proteins / Neurodevelopmental Disorders / Homozygote / Mutation Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2020 Document type: Article