Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome
Preus criteria modified by the Sugayama scoring system are still efficient and helpful for clinical diagnosis. This is the second report on microphthalmia and the first study describing the association between vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia in individuals with Williams-Beuren syndrome.
Authors
- Ana Mondadori dos Santos (ORCID: https://orcid.org/0000-0002-8793-5532)
- Carlos Eduardo Steiner (ORCID: https://orcid.org/0000-0001-5148-3063)
- Karina Montemor Klegen de Oliveira
- Luiza de Oliveira Simões
Institutions
- Universidade Estadual de Campinas (UNICAMP) (BR)
- Faculdade São Leopoldo Mandic (BR)
Publication Details
- Journal
- Cytogenetic and Genome Research
- Published
- 2024-08-19
- DOI
- https://doi.org/10.1159/000540941
- Citations
- 2
- Primary Topic
- Williams Syndrome Research
- Type
- article
- Field-Weighted Citation Impact
- 0.82