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3 Possible Causes for Gain-of-Function Mutation in the NPR2 Gene

  • Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome

    mutation of the natriuretic peptide receptor 2 (NPR2) gene.[web.expasy.org] Positions Description Chain 23 – 1047 Atrial natriuretic peptide receptor 2 Topological domain 479 – 1047 Cytoplasmic Literature citations Overgrowth syndrome associated with a gain-of-function[web.expasy.org]

  • Acromesomelic Dysplasia

    mutation of the natriuretic peptide receptor 2 (NPR2) gene Miura, Miura; Kim, Kim; Lee, Lee; Namba, Namba; Michigami, Michigami; Yoo, Yoo; Choi, Choi; Ozono, Ozono; Cho,[deepdyve.com] Cho An overgrowth disorder associated with excessive production of CGMP due to a gain‐of‐function mutation of the natriuretic peptide receptor 2 gene Miura, Miura; Namba,[deepdyve.com] Langer; Cervenka, Cervenka; Camargo, Camargo Acromesomelic dwarfism Maroteaux, Maroteaux; Martinelli, Martinelli; Campailla, Campailla Overgrowth syndrome associated with a gain‐of‐function[deepdyve.com]

  • Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

    mutation of the natriuretic peptide receptor 2 (NPR2) gene Announcements Am J Med Genet A, 164A, 156-63 Date of publication 2014 Co-researcher Miura K, Kim OH, Lee HR, Namba[snuh.org] RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK and Rios JJ Education / Career Article Overgrowth syndrome associated with a gain-of-function[snuh.org]

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