Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
Abstract Background Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. Case Presentation We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, an...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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