Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
Abstract Background Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prognosis, appropriate therapeutic interventions, and...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2024-05-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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