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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.
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https://hal-amu.archives-ouvertes.fr/hal-03662760
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Submitted on : Monday, May 9, 2022 - 3:29:23 PM
Last modification on : Wednesday, May 11, 2022 - 3:32:20 AM

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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, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩. ⟨hal-03662760⟩

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