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Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.
Jha, Smita; Ivovic, Aleksandra; Kang, Heeseog; Meylan, Françoise; Hanson, Eric P; Rimland, Casey; Lange, Eileen; Katz, James; McBride, Alison; Warner, Andrew C; Edmondson, Elijah F; Cowen, Edward W; Marini, Joan C; Siegel, Richard M; Bhattacharyya, Timothy.
Affiliation
  • Jha S; Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA; Section on Congenital Disorders, National Institutes of Health Clinical Center, Bethesda, Maryland, USA. Electronic addr
  • Ivovic A; Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Kang H; Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Meylan F; Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Hanson EP; Immunodeficiency and Inflammation Unit, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda Maryland, USA.
  • Rimland C; Vasculitis Translational Research Program, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA; Medical Scientist Training Program, University of North Carolina at Chapel Hill School of Medicine,
  • Lange E; Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Katz J; Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • McBride A; Laboratory of Viral Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Warner AC; Pathology and Histotechnology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Edmondson EF; Pathology and Histotechnology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Cowen EW; Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Marini JC; Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Siegel RM; Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA; Immunodeficiency and Inflammation Unit, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Dise
  • Bhattacharyya T; Section on Congenital Disorders, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
J Invest Dermatol ; 141(3): 688-692.e11, 2021 03.
Article in En | MEDLINE | ID: mdl-32791068

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: MAP Kinase Kinase 1 / Melorheostosis Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Invest Dermatol Year: 2021 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: MAP Kinase Kinase 1 / Melorheostosis Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Invest Dermatol Year: 2021 Document type: Article