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Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne, Alicia B; Brouillard, Pascal; Sutton, Drew L; Kazenwadel, Jan; Montazaribarforoushi, Saba; Secker, Genevieve A; Oszmiana, Anna; Babic, Milena; Betterman, Kelly L; Brautigan, Peter J; White, Melissa; Piltz, Sandra G; Thomas, Paul Q; Hahn, Christopher N; Rath, Matthias; Felbor, Ute; Korenke, G Christoph; Smith, Christopher L; Wood, Kathleen H; Sheppard, Sarah E; Adams, Denise M; Kariminejad, Ariana; Helaers, Raphael; Boon, Laurence M; Revencu, Nicole; Moore, Lynette; Barnett, Christopher; Haan, Eric; Arts, Peer; Vikkula, Miikka; Scott, Hamish S; Harvey, Natasha L.
Afiliación
  • Byrne AB; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Brouillard P; Clinical and Health Sciences, University of South Australia, 5001 Adelaide, Australia.
  • Sutton DL; Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.
  • Kazenwadel J; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Montazaribarforoushi S; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Secker GA; Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
  • Oszmiana A; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Babic M; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Betterman KL; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Brautigan PJ; Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
  • White M; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Piltz SG; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Thomas PQ; Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
  • Hahn CN; Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
  • Rath M; Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.
  • Felbor U; South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia.
  • Korenke GC; Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
  • Smith CL; Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.
  • Wood KH; South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia.
  • Sheppard SE; Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
  • Adams DM; Genome Editing Program, South Australian Health and Medical Research Institute, 5000 Adelaide, Australia.
  • Kariminejad A; South Australian Genome Editing Facility, University of Adelaide, 5005 Adelaide, Australia.
  • Helaers R; Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Boon LM; Adelaide Medical School, University of Adelaide, 5005 Adelaide, Australia.
  • Revencu N; Department of Genetics and Molecular Pathology, SA Pathology, 5000 Adelaide, Australia.
  • Moore L; ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, 5001 Adelaide, Australia.
  • Barnett C; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, 17489 Greifswald, Germany.
  • Haan E; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, 17489 Greifswald, Germany.
  • Arts P; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany.
  • Vikkula M; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Scott HS; Division of Cardiology, Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Harvey NL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sci Transl Med ; 14(634): eabm4869, 2022 03 02.
Article en En | MEDLINE | ID: mdl-35235341
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Quilotórax / Factores Reguladores Miogénicos / Vasos Linfáticos / Linfedema Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Pregnancy Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Quilotórax / Factores Reguladores Miogénicos / Vasos Linfáticos / Linfedema Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Pregnancy Idioma: En Revista: Sci Transl Med Asunto de la revista: CIENCIA / MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Australia