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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. ...
- ... 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 ...
- ... 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 ...
- ... linked Spinal Muscular Atrophy. F1000Res. 2017 Sep 4;6:1636. doi: 10.12688/f1000research.11878.1. eCollection ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series ...