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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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |