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

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...

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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.
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3rd Floor Main Library

Detaylı Erişim Bilgileri 3rd Floor Main Library
Yer Numarası: A1234.567
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