Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics*
• Anemia, Refractory / diagnosis*
• Anemia, Refractory / genetics*
• Humans
• Mass Screening*
• Mutation / genetics*
• Prognosis
• Proteins / genetics*