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Title: Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome
Authors: Mégarbané, André
Hana, Sayeeda
Mégarbané, Hala
Castro, Christel
Baulande, Sylvain
Criqui, Audrey
Roëckel-Trevisiol, Nathalie
Dagher, Christel
Al-Ali, Mahmoud Taleb
Desvignes, Jean-Pierre
Mahfoud, Daniel
El-Hayek, Stephany
Delague, Valérie
Affiliations: Faculty of Medicine 
Keywords: Dysmorphology
Exome sequencing
Issue Date: 2021
Part of: Molecular Syndromology
Volume: 12
Issue: 6
Start page: 342
End page: 350
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.
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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