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pro vyhledávání: '"Amber Leston"'
Autor:
Dima Qu’d, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Anne Slavotinek, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in CREBBP lead to RSTS
Externí odkaz:
https://doaj.org/article/161b4de6377147f194258490dd334af5
