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Article

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

JAMA - 2 Feb 2021

Moreno-De-Luca Andrés, Millan Francisca, Pesacreta Denis R, Elloumi Houda Z, Oetjens Matthew T, Teigen Claire, Wain Karen E, Scuffins Julie, Myers Scott M, Torene Rebecca I, Gainullin Vladimir G, Arvai Kevin, Kirchner H Lester, Ledbetter David H, Retterer Kyle, Martin Christa L

Abstract excerpt

Importance: Cerebral palsy is a common neurodevelopmental disorder affecting movement and posture that often co-occurs with other neurodevelopmental disorders. Individual cases of cerebral palsy are often attributed to birth asphyxia; however, recent studies indicate that asphyxia accounts for less than 10% of cerebral palsy cases. Objective: To determine the molecular diagnostic yield of exome sequencing...

Topics

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Cerebral Palsy
Child
Child, Preschool
Cross-Sectional Studies
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Neurodevelopmental Disorders

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Identifiers

PMID: 33528536
DOI: 10.1001/jama.2020.26148
PMCID: PMC7856544

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