Associated Papers
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
Van Hoorde T et al.
Ophthalmic Genetics, 2021
A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
Senthil S et al.
Ophthalmic Genetics, 2021
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