Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25 (Universidade de Sao Paulo (USP)), UEG-LIM25
General information
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, UEG-LIM25
Universidade de Sao Paulo (USP)
Av. Dr. Arnaldo, 455
Sao Paulo
Sao Paulo
Brazil - 01246-903
http://www.fm.usp.br
Organization ID: 506435
Universidade de Sao Paulo (USP)
Av. Dr. Arnaldo, 455
Sao Paulo
Sao Paulo
Brazil - 01246-903
http://www.fm.usp.br
Organization ID: 506435
Personnel
- Alexander Jorge, Principal Investigator
Phone: 5511972720257
Email: alexj@usp.br
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acromesomelic dysplasia 4 | 1 | May 16, 2023 |
| Intellectual disability, FRA12A type | 1 | May 15, 2024 |
| Proportionate short stature | 1 | Nov 17, 2021 |
| Pseudopseudohypoparathyroidism | 1 | Feb 12, 2019 |
| Weaver syndrome | 1 | Nov 29, 2018 |