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Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome (RTS) is an exceedingly infrequent genetic disorder characterized by a multitude of skin findings collectively known as poikiloderma. In normal cells, the RECQL4 gene is involved in DNA replication and repair. RTS is caused by a mutation in the RECQL4 gene, which results in...

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Detalles Bibliográficos
Autores principales: Ali, Zeeshan, Manaktala, Pritika S, Sarkisian, Saro, Rizvi, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7781574/
https://www.ncbi.nlm.nih.gov/pubmed/33409099
http://dx.doi.org/10.7759/cureus.11865