Article
Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.
Cold Spring Harbor molecular case studies - 1 Dec 2022
Spangenberg María Noel, Grille Sofia, Simoes Camila, Dell'Oca Nicolás, Boada Matilde, Guillermo Cecilia, Raggio Victor, Spangenberg Lucía
Abstract excerpt
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 the age of disease expression, normally around the pediatric age, with a predominantly median survival age of 36...
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