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RESEARCH PAPER

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

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Exome and genome sequencing for pediatric patients with
congenital anomalies or intellectual disability: an evidencebased
clinical guideline of the American College of Medical
Genetics and Genomics (ACMG)

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The Cockayne Syndrome Natural History (CoSyNH) study:
clinical findings in 102 individuals and recommendations for care.

Brian T. Wilson

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The UK Strategy for Rare Diseases

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A Comprehensive Description of the Severity Groups in Cockayne Syndrome

Valerie Natale

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