Associated Papers
Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
Fenton NM et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
Kim DH et al.
The American Journal of Gastroenterology, 2025
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
Atzmony L et al.
Pediatric Dermatology, 2022
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