Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
Crossref DOI link: https://doi.org/10.1186/s12881-017-0483-7
Published Online: 2017-11-06
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Liberalesso, Paulo Breno Noronha
Cordeiro, Mara L. http://orcid.org/0000-0002-0235-8001
Karuta, Simone Carreiro Vieira
Koladicz, Karyn Regina Jordão
Nitsche, Anderson
Zeigelboim, Bianca Simone
Raskin, Salmo
Rauchman, Michael