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Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Dobson, Stephanie M; Kiss, Courtney; Borschneck, Daniel; Heath, Karen E; Gross, Adrian; Glucksman, Marc J; Guerin, Andrea.
Affiliation
  • Dobson SM; Queen's Medical School, Queen's University, Kingston, Ontario, Canada.
  • Kiss C; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
  • Borschneck D; Department of Surgery, Queen's University, Kingston, Ontario, Canada.
  • Heath KE; Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad de Madrid, Madrid, Spain.
  • Gross A; Skeletal dysplasia multidisciplinary Unit and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain.
  • Glucksman MJ; CIBERER, ISCIII, Madrid, Spain.
  • Guerin A; Center for Proteomics and Molecular Therapeutics, Department of Biochemistry and Molecular Biology, Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, USA.
Am J Med Genet A ; 188(7): 2162-2167, 2022 07.
Article in En | MEDLINE | ID: mdl-35316564
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Synostosis / Craniosynostoses / Elbow Joint / Joint Instability Type of study: Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Canada
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Synostosis / Craniosynostoses / Elbow Joint / Joint Instability Type of study: Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Canada