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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Italian Journal of Pediatrics
Subjects:
Schinzel-Giedion syndrome
Whole exome sequencing
SETBP1
Critically ill neonate
Online Access:http://link.springer.com/article/10.1186/s13052-020-00839-y

Internet

http://link.springer.com/article/10.1186/s13052-020-00839-y

Similar Items