bloom syndrome
a rare autosomal recessive disorder caused by mutations in the BLM gene
This gene encodes DNA helicase, an enzyme responsible for unwinding of the double helix during DNA replication and repair. Helicase dysfunction results in chromosomal instability and breakage and manifests clinically with growth retardation, facial anomalies (eg, ☆microcephaly), ☆photosensitive rash, and immunodeficiency (eg, recurrent infections).
genetics
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