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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Materyal Türü: | Kitap |
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BMC,
2019-07-01T00:00:00Z.
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Yer Numarası: |
A1234.567 |
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Kopya Bilgisi 1 | Kütüphanede |