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

• Main Authors: Zöe Powis (Author), Alexa Hart (Author), Sara Cherny (Author), Igor Petrik (Author), Erika Palmaer (Author), Sha Tang (Author), Carolyn Jones (Author)
• Format: Book
• Published: BMC, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...