Cargando…
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Patient: Female, 7-year-old Final Diagnosis: Noonan-like syndrome with loose anagen hair Symptoms: Thrombocytopaenia and anaemia Clinical Procedure: — Specialty: Genetics • Hematology • Pediatrics and Neonatology OBJECTIVE: Rare disease Background: RASopathies involve mutations in genes that encode...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697549/ https://www.ncbi.nlm.nih.gov/pubmed/38019730 http://dx.doi.org/10.12659/AJCR.942377 |