Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms

We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman–Diamond syndrome (SDS) with an atypical presentation. Unexpected was...

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Detalles Bibliográficos
Autores principales: Spangenberg, María Noel, Grille, Sofia, Simoes, Camila, Dell'Oca, Nicolás, Boada, Matilde, Guillermo, Cecilia, Raggio, Victor, Spangenberg, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808556/
https://www.ncbi.nlm.nih.gov/pubmed/36577524
http://dx.doi.org/10.1101/mcs.a006237

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