Pele Pequeno Principe Research Institute (Faculdades Pequeno Principe), IPPPP
General information
Pele Pequeno Principe Research Institute, IPPPP
Faculdades Pequeno Principe
Avenida Silva Jardim, 1632
Curitiba
Brazil - 80250200
http://www.fpp.edu.br
Organization ID: 506265
Faculdades Pequeno Principe
Avenida Silva Jardim, 1632
Curitiba
Brazil - 80250200
http://www.fpp.edu.br
Organization ID: 506265
Personnel
- Daniel Almeida do Valle, Staff
Phone: +554133101035
Email: daniel.valle@hpp.org.br - Mara Lúcia Cordeiro, Principal Investigator
Phone: +554133101035
Email: MCordeiro@mednet.ucla.edu - Carolina Prando, Principal Investigator
Phone: +554133101035
Email: carolina.prando@pelepequenoprincipe.org.br - Roberto Rosati, Principal Investigator
Phone: +554133101035
Email: rosatiroberto@hotmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 15
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 15q11q13 microduplication syndrome | 1 | Sep 23, 2022 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Jan 5, 2024 |
| Burkitt lymphoma | 1 | Sep 26, 2022 |
| Hereditary factor VIII deficiency disease | 1 | Sep 26, 2022 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Aug 11, 2022 |
| Oculocutaneous albinism type 1B | 4 | Dec 20, 2019 |
| Oculocutaneous albinism type 4 | 2 | Dec 6, 2019 |
| Opsoclonus-myoclonus syndrome | 2 | Sep 26, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 2 | Dec 6, 2019 |