Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome
Elizabeth VanSickle, Julianne Michael, André S. Bachmann, Surender Rajasekaran et autres
Bachmann-Bupp syndrome (BABS) is a rare syndrome caused by gain-of-function variants in the C-terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non-congenital alopecia. Recent diagnosis of four …
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