Below are the most recent publications written about "Musculoskeletal Abnormalities" by people in Profiles.
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Gomez JA, Ge DH, Boden E, Hanstein R, Alvandi LM, Lo Y, Hwang S, Samdani AF, Sponseller PD, Garg S, Skaggs DL, Vitale MG, Emans J. Posterior-only Resection of Single Hemivertebrae With 2-Level Versus >2-Level Fusion: Can We Improve Outcomes? J Pediatr Orthop. 2022 Aug 01; 42(7):354-360.
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Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE, Zackai EH. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. Am J Med Genet A. 2021 05; 185(5):1486-1493.
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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.
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Ghany J, Desai V, Morrison W. Advanced MRI Techniques for Assessing Marrow Abnormalities of the Spine. Instr Course Lect. 2020; 69:625-640.
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Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW. VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648.
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Passias PG, Poorman GW, Jalai CM, Diebo BG, Vira S, Horn SR, Baker JF, Shenoy K, Hasan S, Buza J, Bronson W, Paul JC, Kaye I, Foster NA, Cassilly RT, Oren JH, Moskovich R, Line B, Oh C, Bess S, LaFage V, Errico TJ. Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies. J Pediatr Orthop. 2019 Sep; 39(8):e608-e613.
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Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genet Med. 2019 09; 21(9):2070-2080.
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Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK. Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. Am J Obstet Gynecol. 2018 12; 219(6):545-562.
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Vahidnezhad H, Youssefian L, Baghdadi T, Sotoudeh S, Tavassoli A, Zeinali S, Afsharaalam S, Uitto J. Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum. Br J Dermatol. 2016 Oct; 175(4):810-4.
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Seigerman DA, Matzon JL. Common Anomalous Muscles Encountered During Upper Extremity Surgery. J Hand Surg Am. 2015 Jul; 40(7):1473-5; quiz 1476.