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

• Asıl Yazarlar: Evelina Siavrienė (Yazar), Gunda Petraitytė (Yazar), Violeta Mikštienė (Yazar), Tautvydas Rančelis (Yazar), Živilė Maldžienė (Yazar), Aušra Morkūnienė (Yazar), Jekaterina Byčkova (Yazar), Algirdas Utkus (Yazar), Vaidutis Kučinskas (Yazar), Eglė Preikšaitienė (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2019-07-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...