Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Diana Marcela Vasquez-Forero"'
Autor:
Diana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, Christian Martin Moya, Harry Pachajoa
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Zhu–Tokita–Takenouchi–Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital m
Externí odkaz:
https://doaj.org/article/5a2a6a887d0e4948b86fc7e2daf61134
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are
Externí odkaz:
https://doaj.org/article/3f89fb0b503046ca9be396353f2f1d37
Autor:
Stiven Sinisterra, Diana Marcela Vasquez Forero, Luis Prieto Valdes, Santiago Cruz Zamorano, Jaime Valderrama Chaparro, Harry Pachajoa
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101254- (2024)
Externí odkaz:
https://doaj.org/article/0afbe7afaff94d978f8e1e15bfb77bad