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- W2891024779 abstract "Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity." @default.
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- W2891024779 date "2018-09-08" @default.
- W2891024779 modified "2023-09-26" @default.
- W2891024779 title "A novel <i>ASPH</i> variant extends the phenotype of Shawaf-Traboulsi syndrome" @default.
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- W2891024779 doi "https://doi.org/10.1002/ajmg.a.40508" @default.
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