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|Title:||Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome||Authors:||Mégarbané, André
Al-Ali, Mahmoud Taleb
|Affiliations:||Faculty of Medicine||Keywords:||Dysmorphology
|Issue Date:||2021||Part of:||Molecular Syndromology||Volume:||12||Issue:||6||Start page:||342||End page:||350||Abstract:||
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in IRX5 in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.
|URI:||https://scholarhub.balamand.edu.lb/handle/uob/5301||ISSN:||1661-8769||DOI:||10.1159/000517253||Open URL:||Link to full text||Type:||Journal Article|
|Appears in Collections:||Faculty of Medicine|
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