Associated Papers
Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
Kim DH et al.
The American Journal of Gastroenterology, 2025
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Tan EC et al.
Molecular Genetics & Genomic Medicine, 2022
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