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Article

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.

American journal of medical genetics. Part A - 1 Nov 2018

Abarca Barriga Hugo H, Caballero Nathaly, Trubnykova Milana, Castro-Mujica María Del Carmen, La Serna-Infantes Jorge E, Vásquez Flor, Hennekam Raoul C

Abstract excerpt

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...

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Identifiers

PMID: 30194805
DOI: 10.1002/ajmg.a.40508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.PMID 30194805Read ↗

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