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Article

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

The Journal of clinical endocrinology and metabolism - 1 May 2017

Murdock David R, Donovan Frank X, Chandrasekharappa Settara C, Banks Nicole, Bondy Carolyn, Muenke Maximilian, Kruszka Paul

Abstract excerpt

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 if whole-exome sequencing (WES) as part of a potential NBS program could be used to diagnose TS. Design, Setting,...

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Topics

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28324009
DOI: 10.1210/jc.2016-3414
PMCID: PMC5443329

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