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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. [5] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or ...
Radiation is known to cause DNA damage, which can cause errors in cell replication, which may result in chromosomal instability. Chromosomal instability can in turn cause cancer. However, chromosomal instability syndromes such as Bloom syndrome, ataxia telangiectasia and Fanconi anaemia are inherited [14] and are considered to be genetic ...
Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz syndrome; Bonnet ...
But elimination of any gene essential for base excision repair kills the embryo—it is too lethal to display symptoms (much less symptoms of cancer or "accelerated aging"). [38] Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features ...
Essentially, toasted skin syndrome can happen anywhere that skin is exposed to heat. "The typical location of the discoloration is the back of heating pads and the anterior thighs from a laptop ...
Clotting disorder — Bloom's autopsy revealed he had factor V Leiden, his widow noted, a hereditary gene mutation that can increase a person's chance of developing abnormal blood clots. The ...
Signs and symptoms are often non-specific, but some combinations can be suggestive of certain diagnoses, helping to narrow down what may be wrong. A particular set of characteristic signs and symptoms that may be associated with a disorder is known as a syndrome.