Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

Autor: Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Sisco KA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Stone SI; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA., Sheehan JH; John T. Milliken Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA., Ramsey KM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63854. Date of Electronic Publication: 2024 Aug 21.