Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285
We suggest that, when this variant is identified in an individual, clinicians should be warned of a possible higher prevalence of LA and a prompt evaluation should be performed if any clinical signs are noticed.
Authors
- Guilherme Lopes Yamamoto (ORCID: https://orcid.org/0000-0002-0490-8257)
- Lucas Vieira Lacerda Pires (ORCID: https://orcid.org/0000-0001-8649-976X)
- Débora Romeo Bertola (ORCID: https://orcid.org/0000-0002-4701-6777)
- Rachel Sayuri Honjo (ORCID: https://orcid.org/0000-0002-9223-7341)
- Chong Ae Kim (ORCID: https://orcid.org/0000-0002-1754-1300)
- Vera Dermachi Aiello
- Cleyde Mirian Aversa Nakaie
- Eduardo Da Cás
- Letícia Cole de Melo
Institutions
- Universidade de São Paulo (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-08-22
- DOI
- https://doi.org/10.1159/000540570
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Conselho Nacional de Desenvolvimento Científico e Tecnológico