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Journal Articles Molecular Syndromology Year : 2021

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

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.

Dates and versions

hal-03662760 , version 1 (09-05-2022)

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André Mégarbané, Sayeeda Hana, Hala Mégarbané, Christel Castro, Sylvain Baulande, et al.. Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome. Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩. ⟨hal-03662760⟩
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