Article
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
American journal of medical genetics. Part A - 1 Nov 2021
VanSickle Elizabeth A, Michael Julianne, Bachmann André S, Rajasekaran Surender, Prokop Jeremy W, Kuzniecky Ruben, Hofstede Floris C, Steindl Katharina, Rauch Anita, Lipson Mark H, Bupp Caleb P
Abstract excerpt
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 more BABS patients provides further characterization of the phenotype of this syndrome including late-onset...
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