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Growth Hormone Deficiency
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Autoimmune PAP
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Homozygous Familial Hypercholesterolemia (HoFH)
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IgG4-RD
Higher IgG4 cutoff levels reduce diagnostic accuracy for autoimmune pancreatitis (AIP), according to a poster presented at the American College of Gastroenterology 2024 Annual Meeting. Researchers reviewed electronic health records (EHRs) to identify...
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Smith-Lemli-Opitz-Syndrome
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Inherited Retinal Diseases
While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...
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