Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening

CONTEXT: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). Diagnosis is often delayed, resulting in missed crucial diagnostic and therapeutic opportunities. OBJECTIVES: This study sought to determine...

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Detalles Bibliográficos
Autores principales: Murdock, David R., Donovan, Frank X., Chandrasekharappa, Settara C., Banks, Nicole, Bondy, Carolyn, Muenke, Maximilian, Kruszka, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443329/
https://www.ncbi.nlm.nih.gov/pubmed/28324009
http://dx.doi.org/10.1210/jc.2016-3414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443329/
https://www.ncbi.nlm.nih.gov/pubmed/28324009
http://dx.doi.org/10.1210/jc.2016-3414

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