Last Updated: 09/26/2026
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Found 5 publications
Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.
Journal: BMJ case reports
Published: February 05, 2021
Type 2 Diabetes in Youth: the Role of Early Life Exposures.
Journal: Current diabetes reports
Published: August 09, 2020
Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications.
Journal: Case reports in pediatrics
Published: December 05, 2019
Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
Journal: Clinical endocrinology
Published: November 10, 2019
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Last Updated: 09/26/2026