Author:
Wang Lin-Li,Zhang Lei-Ying,Zhou Jie-Li
Reference5 articles.
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2. Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family;Lei;Mol Genet Genomic Med,2021
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4. A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome;Senthil;Ophthalmic Genet,2021
5. Traboulsi syndrome caused by mutations in ASPH: an autosomal recessive disorder with overlapping features of Marfan syndrome;Jones;Eur J Med Genet,2022