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A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Ryabets-Lienhard, Anna; Panjawatanan, Panadeekarn; Vogt, Kyle; Ji, Jianling; Georgia, Senta; Pitukcheewanont, Pisit.
Affiliation
  • Ryabets-Lienhard A; Center for Endocrinology, Diabetes and Metabolism, Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA. aryabets@chla.usc.edu.
  • Panjawatanan P; University of Southern California Keck School of Medicine, Los Angeles, CA, USA. aryabets@chla.usc.edu.
  • Vogt K; Department of Internal Medicine, Bassett Medical Center, Cooperstown, NY, USA.
  • Ji J; Emergency Medicine Department, Ben Taub Hospital, Baylor College of Medicine, Houston, TX, USA.
  • Georgia S; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Pitukcheewanont P; Department of Pathology, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
Calcif Tissue Int ; 112(4): 518-523, 2023 04.
Article in En | MEDLINE | ID: mdl-36575358
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ossification, Heterotopic / Contracture Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Calcif Tissue Int Year: 2023 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ossification, Heterotopic / Contracture Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Calcif Tissue Int Year: 2023 Type: Article Affiliation country: United States