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Bloom syndrome (often abbreviated as BS in literature) [1] is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability.
Howard Bloom [1] Publicist and writer American Olaf Bodden [8] Professional soccer player German Jennifer Brea [9] Documentary filmmaker and activist American Ricky Carmichael [10] Motocross racer American Cher [1] [11] Recording artist, actress, director, and record producer American Roger Cicero [12] Jazz and pop musician German Pema ...
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...
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 ...
Kylie Allen-Kulyk, like the famous singer, has been diagnosed with the rare autoimmune disease that causes progressive muscle rigidity and spasms. Edinboro woman with stiff person syndrome now in ...
People with stiff-person syndrome, which Celine Dion has, share the challenges of living with this rare and painful health condition. Celine Dion details life with stiff-person syndrome ahead of ...
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 ...