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Bloom syndrome

*Gene map locus 15q26.1
BLM
Bloom-Torre-Machacek syndrome
[Clinical features: short stature; unusual facies; photosensitive facial skin lesion; immunodeficiency; predisposition to malignancy]
[Inheritance: autosomal recessive]

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder
British Journal of Ophthalmology
British Journal of Ophthalmology
British Journal of Ophthalmology

Bloom Syndrome (Congenital Telangiectatic Erythema)
Bloom syndrome
Bloom syndrome
eMedicine
Yale Pediatrics Resident's Website
Yale Pediatrics Resident's Website


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Edited by Aldo Campana, March 14, 2010