Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cristal Hernandez-Hernandez"'
Autor:
Cristal Hernandez Hernandez, Nhat Duong, Andrea Cohen, Elmer Rajah, Eric Vilain, Daniel Felten, Andrea Gropman, Seth Berger
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101101- (2024)
Externí odkaz:
https://doaj.org/article/a47875e0271546358eddc6375a171096
Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
Autor:
Jose Pascual, Edwin Rodriguez, Cristal Hernandez-Hernandez, Simon Carlo, Frances Velez-Bartolomei, Alberto Santiago Cornier
Publikováno v:
AME Case Rep
We are presenting the case of a 6-year-old male patient with progeroid phenotype and severe developmental delay referred to Genetic clinic. Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c3e2df3d0da93986922df3d50aa160
https://europepmc.org/articles/PMC8572670/
https://europepmc.org/articles/PMC8572670/
