Search results
Results From The WOW.Com Content Network
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.
When skin diseases and disorders or skin conditions described as dermatoses contain the term poikiloderma in their assessment or diagnosis (such as with Bloom syndrome), this can sometimes be an erroneous usage of the term. [5] Discretion has been advised. [5]
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 ...
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.
DNA repair defects are seen in nearly all of the diseases described as accelerated aging disease, in which various tissues, organs or systems of the human body age prematurely. Because the accelerated aging diseases display different aspects of aging, but never every aspect, they are often called segmental progerias by biogerontologists .
IBIDS syndrome, following the acronym from ichthyosis, brittle hair and nails, intellectual impairment and short stature, is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. [9] (Chong Hai Tay was the Singaporean doctor who was the first doctor in South East Asia to have a disease named after him.
Diseases and disorders GAD Generalized anxiety disorder: GAN Giant axonal neuropathy: GAS disease Group A Streptococcal disease: GAVE Gastric antral vascular ectasia (see Watermelon stomach) GBS Guillain–Barré syndrome: GBS disease Group B Streptococcal disease: GCE Glycine encephalopathy: GD Gestational diabetes: GERD Gastroesophageal ...
The condition remains a fatal disease, as the horse inevitably succumbs to an opportunistic infection within the first four to six months of life. [38] However, carriers, who themselves are not affected by the disease, can be detected with a DNA test. Therefore, careful breeding practices can avoid the risk of an affected foal being produced. [39]