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Jan 23, 2024 · BS (MIM #210900) is an autosomal recessive chromosomal instability disorder that is caused by pathogenic variants in the BLM gene (MIM#604610) at 15q26.1 [ 7-9 ]. This gene encodes a RecQ helicase, RECQL3, called the Bloom syndrome protein (Blm), which helps maintain the stability of DNA when the DNA duplexes are unwound during recombination ...
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most afected individuals have normal intellectual ability.
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age.
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability.
Bloom syndrome affects many different body systems and is characterized by slow growth, sun sensitivity, and an increased risk of cancer. Symptoms include short stature, sun-sensitive skin rash, and an immune system that doesn’t work correctly. Some people with Bloom syndrome have learning disabilities, type 2 diabetes, and chronic ...
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and CID. Spontaneous chromosomal anomalies appear in lymphoblasts and other cell types. Hypogammaglobulinemia, including low levels of IgM, is common. As a result, BS patients experience recurrent respiratory infections that can lead to chronic lung ...
