A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

• Main Authors: Evelina Siavrienė (Author), Gunda Petraitytė (Author), Violeta Mikštienė (Author), Tautvydas Rančelis (Author), Živilė Maldžienė (Author), Aušra Morkūnienė (Author), Jekaterina Byčkova (Author), Algirdas Utkus (Author), Vaidutis Kučinskas (Author), Eglė Preikšaitienė (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background CHARGE syndrome (MIM# 214800)-which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growth retardation, and developmental delay-is caused by a heterozygous vari...