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Bone marrow failure syndrome
- Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the ...
- ... cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. ...
- ... TELOMERASE RNA COMPONENT; TERC PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2; PFBMFT2 NCBI Gene ClinVar Arish ...
- ... SAMD9L gene have been found to cause ataxia-pancytopenia syndrome, a rare condition that affects the cerebellum and ... white blood cells, and platelets. People with ataxia-pancytopenia syndrome have an increased risk of certain cancerous conditions ...
- ... IS. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013 Mar;98(3):334-8. doi: ...
- ... types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs ...
- ... Fujiwara TM, Durie PR, Rommens JM. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. ...
- ... development, causing a shortage of healthy blood cells ... syndrome. Features related to hyperviscosity syndrome include bleeding in ...
- ... serious condition called aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not ... people with isolated aplastic anemia, a form of bone marrow failure that occurs without the other physical features of ...
- ... all blood cells, resulting in a condition called bone marrow failure. Affected individuals usually also have allergies, asthma, or ... hyper IgE and cognitive impairment Immunodeficiency-vasculitis-myoclonus syndrome PGM3 deficiency PGM3-CDG PGM3-related congenital disorder ...