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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Rraku, Eleana; Kerstjens-Frederikse, Wilhelmina S; Swertz, Morris A; Dijkhuizen, Trijnie; van Ravenswaaij-Arts, Conny M A; Engwerda, Aafke.
Affiliation
  • Rraku E; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Swertz MA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Dijkhuizen T; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • van Ravenswaaij-Arts CMA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.
  • Engwerda A; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.
Orphanet J Rare Dis ; 18(1): 68, 2023 03 24.
Article in En | MEDLINE | ID: mdl-36964621
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Social Media / Heart Defects, Congenital Type of study: Guideline / Prognostic_studies Aspects: Patient_preference Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Social Media / Heart Defects, Congenital Type of study: Guideline / Prognostic_studies Aspects: Patient_preference Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom