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

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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Bibliographic Details
Main Authors: Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Medical Genetics
Subjects:
RBM10 protein
Human
Exome
Clinical diagnostic sequencing
TARP syndrome
Oligodactyly
Online Access:http://link.springer.com/article/10.1186/s12881-017-0426-3

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http://link.springer.com/article/10.1186/s12881-017-0426-3

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