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Publications by Christine K. C. Loo

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

Frontiers in Immunology
AllergyImmunology
2018English

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STING-associated Vasculopathy With Onset in Infancy

2020English

Interstitial Lung Disease Caused by STING-associated Vasculopathy With Onset in Infancy

American Journal of Respiratory and Critical Care Medicine
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2016English

THU0528 Sting-Associated Vasculopathy With Onset in Infancy (SAVI): A Differential Diagnosis of Inflammatory Interstitial Lung Disease

2017English

APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)

American Journal of Kidney Diseases
Nephrology
2020English

A Loss-Of-Function CACNA1A Mutation Causing Benign Paroxysmal Torticollis of Infancy

Journal of Headache and Pain
MedicineNeurologyAnesthesiologyPain Medicine
2013English

Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration

Case Reports in Neurological Medicine
2013English

A Novel Mutation in the Interleukin-1 Receptor Antagonist Associated With Intrauterine Disease Onset

Clinical Immunology
AllergyImmunology
2012English

231 a Mutation in the SAM Domain of P63 Causing a Mild Ectodermal Dysplasia Phenotype

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2017English

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated With a Novel Mutation in ENPP1

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2011English

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