Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives

Bezzerri, V; Cipolli, M

Cipolli, M (reprint author), Azienda Osped Univ Ospedali Riuniti Ancona, Cyst Fibrosis Ctr, Via Conca 71, I-60126 Ancona, Italy.

MOLECULAR DIAGNOSIS & THERAPY, 2019; 23 (2): 281

Abstract

Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. However,......

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