Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation t...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-09-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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