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

Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab...

Source: Italian Journal of Pediatrics - May 27, 2020 Category: Pediatrics 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 and Nenad Bukvic Tags: Case report Source Type: research