Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292803/
https://www.ncbi.nlm.nih.gov/pubmed/34477286
http://dx.doi.org/10.1002/ajmg.a.62473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292803/
https://www.ncbi.nlm.nih.gov/pubmed/34477286
http://dx.doi.org/10.1002/ajmg.a.62473

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