Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita

Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare congenital disorder characterized by cutaneous vascular anomalies. We report a 2-year-old boy with both Wilms tumor and CMTC. Genetic testing, pr...

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Detalles Bibliográficos
Autores principales: Friedman, Cameron D., DeBrosse, Suzanne, Mitchell, Anna, Horn, Joanna, Merrill, Michelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Clinical and Laboratory Observations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9809993/
https://www.ncbi.nlm.nih.gov/pubmed/35700413
http://dx.doi.org/10.1097/MPH.0000000000002498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9809993/
https://www.ncbi.nlm.nih.gov/pubmed/35700413
http://dx.doi.org/10.1097/MPH.0000000000002498

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