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pro vyhledávání: '"Juan Trujillo Angel"'
Autor:
Maria Arteaga Pichardo, Felipe Bernate, Juan Trujillo Angel, Maria Santana Alba, Maria Lubo, Natalia Avellaneda Perdigon, Lev Bladimir Ramirez, Daniel Jimenez, Sofia Atuesta Escobar, Isabel Fernandez Gonzalez, Luis Celis Regalado
Publikováno v:
Iranian Journal of Neonatology, Vol 15, Iss 3, Pp 60-64 (2024)
Background: Radio-Tartaglia syndrome or RATARS is an unfamiliar disease caused by a heterozygous mutation of the SPEN gen in the 1p36 chromosome. Clinically, it is represented by global developmental delay and intellectual disability; however, it can
Externí odkaz:
https://doaj.org/article/2e3e8e22686c4f33a4f71c21f58f05f0