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Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: weaver kn. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Medically actionable comorbidities in adults with Costello syndrome.
Shikany AR, Baker L, Stabley DL, Robbins K, Doyle D, Gripp KW, Weaver KN. Shikany AR, et al. Among authors: weaver kn. Am J Med Genet A. 2020 Jan;182(1):130-136. doi: 10.1002/ajmg.a.61394. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680412
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Inskeep KA, et al. Among authors: weaver kn. Am J Med Genet A. 2022 Jan;188(1):104-115. doi: 10.1002/ajmg.a.62497. Epub 2021 Sep 15. Am J Med Genet A. 2022. PMID: 34523780 Free PMC article.
86 results