Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mol Syndromol
; 12(6): 342-350, 2021 Oct.
Article
em En
| MEDLINE
| ID: mdl-34899143
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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MEDLINE
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En
Ano de publicação:
2021
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Article