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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