A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
Background: Branchio-oculo-facial syndrome (BOFS) is a rare congenital developmental disorder with highly variable clinical phenotypes in autosomal dominant inheritance. The aim of this study is to identify disease-causing mutations in a Chinese family with predominant coloboma of choroid.Case repor...
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| Автори: | , , , , , |
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| Формат: | Книга |
| Опубліковано: |
Frontiers Media S.A.,
2020-07-01T00:00:00Z.
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Connect to this object online.3rd Floor Main Library
| Шифр: |
A1234.567 |
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| Примірник 1 | Доступно |