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In this issue: Rare-X report provides update on the true number of rare diseases; new review article on bone marrow failure disorders by...

In this issue: Dr. Bezzerri provides an update on a therapeutic approach targeting premature termination codon (PTC) mutations in SDS, or...

In this issue: Report of a new variant in DNAJC21 associated with SDS like symptoms; Plus, new FDA Guidance on Patient-Focused Drug...