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Bone marrow failure syndrome 4
- ... 1365-2141.2009.07598.x. Epub 2009 Feb 4. Citation on PubMed or Free article on ... and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. ...
- ... about the protein's function there. At least four inherited mutations in the SAMD9L gene have been found to cause ataxia-pancytopenia syndrome, a rare condition that affects the cerebellum and ...
- ... TELOMERASE RNA COMPONENT; TERC PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2; PFBMFT2 NCBI Gene ClinVar Arish ...
- ... megakaryocyte precursor cells in the blood, liver, and bone marrow. In ... (hydrops fetalis), and heart failure.It is estimated that 20 to 30 percent ...
- ... in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. doi: 10.1182/blood-2006-12-062851. Epub 2007 Sep 4. Citation on PubMed or Free article on PubMed ...
- ... X-linked Spinal Muscular Atrophy. F1000Res. 2017 Sep 4;6:1636. doi: 10.12688/f1000research.11878.1. ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series ...