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Bone marrow failure syndrome 6
- ... D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016. ...
- ... D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016. ...
- Find a Hematologist (American Society of Hematology)... Clinical Interests: (Select) Anemia Aplastic Anemia-Bone Marrow Failure Autoimmune Disorders Bleeding Disorders Bone Marrow-Stem Cell Transplantation Leukemia Low ... No results found ...
- Dror Y. Inherited bone marrow failure syndromes. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice . 8th ed. Philadelphia, PA: ...
- ... 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 ...
- ... IS. Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. 2013 Mar;98(3):334-8. doi: ...
- Cerebellar Disorders (National Library of Medicine)When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
- ... types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs ... manifestations and management of four children with Pearson syndrome. Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 ...
- ... 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. ...