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

• Main Authors: Maria Pia Leone (Author), Pietro Palumbo (Author), Orazio Palumbo (Author), Ester Di Muro (Author), Massimiliano Chetta (Author), Nicola Laforgia (Author), Nicoletta Resta (Author), Alessandro Stella (Author), Stefano Castellana (Author), Tommaso Mazza (Author), Marco Castori (Author), Massimo Carella (Author), Nenad Bukvic (Author)
• Format: Knjiga
• Izdano: BMC, 2020-05-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...