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8. Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. Review of literature

Author

Atencia Goñi, Jose, Orera Clemente, María, Del Valle Diéguez, Mariano Jose, González Fernández, Laura, and González Albarrán, Olga

Abstract

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.

Published
2024
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