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. 2022 Aug 11;140(6):556–570. doi: 10.1182/blood.2020006481

Table 5.

SDS genetic subtypes

SDS Subtype Approximate % of patients with SDS Chromosome location Gene product Exons
Classic
 Autosomal recessive >90 7q11.21 SBDS 5
SDS-like
 Autosomal recessive <2 5p13.2 DNAJC21 14
<2 15q25.2 EFL1 22
 Autosomal dominant
<2 14q13.2 SRP54 17