Educational objective: Bloom syndrome is a rare autosomal rece | USMLE Biochemistry Videos & Books

Educational objective: Bloom syndrome is a rare autosomal recessive condition caused by mutations in the BLM gene encoding helicase, an enzyme that unwinds the double helix during DNA replication. Patients typically present with growth retardation, facial anomalies, photosensitive skin rash, and immunodeficiency due to chromosomal instability and breakage.