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pro vyhledávání: '"Melanie A. Manning MD"'
Autor:
Christina G. Tise MD, PhD, Dena R. Matalon MD, Melanie A. Manning MD, Heather M. Byers MD, Monica Grover MBBS
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 10 (2022)
Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and di
Externí odkaz:
https://doaj.org/article/ba92ac4751da43b1b5235d1e07e9f189