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Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
Leffler, Melanie; Christie, Louise; Hackett, Anna; Bennetts, Bruce; Goel, Himanshu; Amor, David J; Peters, Greg B; Field, Michael; Dudding-Byth, Tracy.
Affiliation
  • Leffler M; NSW Genetics of Learning Disability (GOLD) Service, Hunter New England Local Health District, Waratah, New South Wales, Australia.
  • Christie L; NSW Genetics of Learning Disability (GOLD) Service, Hunter New England Local Health District, Waratah, New South Wales, Australia.
  • Hackett A; NSW Genetics of Learning Disability (GOLD) Service, Hunter New England Local Health District, Waratah, New South Wales, Australia.
  • Bennetts B; Department of Molecular Genetics, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Goel H; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Amor DJ; Hunter Genetics, Hunter New England Local Health District, Waratah, New South Wales, Australia.
  • Peters GB; University of Newcastle, Callaghan, New South Wales, Australia.
  • Field M; Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Dudding-Byth T; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.
Clin Genet ; 103(6): 681-687, 2023 06.
Article in En | MEDLINE | ID: mdl-36688272
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Copy Number Variations / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Australia Country of publication: Dinamarca
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Copy Number Variations / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Australia Country of publication: Dinamarca