Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby
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DOI: 10.1097/md.0000000000028759
Abstract: Abstract Rationale: Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by symptoms that include developmental delay and musculoskeletal… read more here.
Keywords: opitz syndrome; bohring opitz; ivf; ivf baby ... See more keywords