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

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, and bilat...

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Detalles Bibliográficos
Autores principales: Powis, Zöe, Hart, Alexa, Cherny, Sara, Petrik, Igor, Palmaer, Erika, Tang, Sha, Jones, Carolyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455125/
https://www.ncbi.nlm.nih.gov/pubmed/28577551
http://dx.doi.org/10.1186/s12881-017-0426-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455125/
https://www.ncbi.nlm.nih.gov/pubmed/28577551
http://dx.doi.org/10.1186/s12881-017-0426-3

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