The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

BACKGROUND: Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as...

Descripción completa

Detalles Bibliográficos
Autores principales: Leone, Maria Pia, Palumbo, Pietro, Palumbo, Orazio, Di Muro, Ester, Chetta, Massimiliano, Laforgia, Nicola, Resta, Nicoletta, Stella, Alessandro, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Carella, Massimo, Bukvic, Nenad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254667/
https://www.ncbi.nlm.nih.gov/pubmed/32460883
http://dx.doi.org/10.1186/s13052-020-00839-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254667/
https://www.ncbi.nlm.nih.gov/pubmed/32460883
http://dx.doi.org/10.1186/s13052-020-00839-y

Ejemplares similares