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Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran, Thao T; Keller, Rachel B; Guillemyn, Brecht; Pepin, Melanie; Corteville, Jane E; Khatib, Samir; Fallah, Mohammad-Sadegh; Zeinali, Sirous; Malfait, Fransiska; Symoens, Sofie; Coucke, Paul; Witters, Peter; Levtchenko, Elena; Bagherian, Hamideh; Nickerson, Deborah A; Bamshad, Michael J; Chong, Jessica X; Byers, Peter H.
Afiliación
  • Tran TT; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
  • Keller RB; Department of Pathology, University of Washington, Seattle, WA 98195, USA.
  • Guillemyn B; Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
  • Pepin M; Department of Pathology, University of Washington, Seattle, WA 98195, USA.
  • Corteville JE; Department of Reproductive Biology, Case Western Reserve University, Cleveland, OH 44106, USA.
  • Khatib S; GMDC Al Quds University, P.O. Box 5100, Abu Dis, Palestine.
  • Fallah MS; Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran.
  • Zeinali S; Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran.
  • Malfait F; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
  • Symoens S; Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
  • Coucke P; Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
  • Witters P; Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
  • Levtchenko E; Center for Metabolic Diseases, University Hospital Leuven, Department of Paediatric Gastroenterology, Hepatology, and Nutrition, Leuven, Belgium.
  • Bagherian H; University Hospital Leuven, Departments of Pediatric Nephrology and Development and Regeneration, Leuven, Belgium.
  • Nickerson DA; GMDC Al Quds University, P.O. Box 5100, Abu Dis, Palestine.
  • Bamshad MJ; Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran.
  • Chong JX; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Byers PH; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
HGG Adv ; 2(4): 100051, 2021 Oct 14.
Article en En | MEDLINE | ID: mdl-35047842
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: HGG Adv Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: HGG Adv Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos