Bohring-Opitz Syndrome
Report of a Patient with a Novel Variant in the ASXL1 Gene & Review of LiteratureAcknowledgements:
- Chellappa, Roopa Kunthavai
- Govindarajulu, Santhosh
- Chellappa, Venkatesh
Genetic Clinics 17(4):p 3-8, Oct-Dec 2024.
Bohring-Opitz Syndrome (BOS) is a very rare genetic disorder with multiple anomalies caused by heterozygous pathogenic variants in the ASXL1 gene. The child reported here had the classic presentation of BOS due to a novel pathogenic variant in the ASXL1 gene.
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