- ... NORD) Catalog of Genes and Diseases from OMIM THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Scientific Articles on PubMed PubMed References Albers CA, Paul DS, Schulze H, Freson K, ...
- ... may contain more recent information. — ED. Table A. Thrombocytopenia Absent Radius ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... Stormorken syndrome: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
- ... cancer can occur. More About This Health Condition Thrombocytopenia-absent radius syndrome A deletion in the 1q21.1 region of ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb;80(2): ...
- ... not needed. Health Conditions Related to Genetic Changes Thrombocytopenia-absent radius syndrome Mutations in the RBM8A gene cause thrombocytopenia-absent ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome</url><title >Thrombocytopenia-absent radius syndrome</title><other_ ...
- ... neurofibromas, iris Lisch nodules, choroidal freckling RBM8A 2 Thrombocytopenia absent radius syndrome AR Not assoc w/chromosome breakage Bilateral absence ...
- ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007; 80 :232–40. [ ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
- ... PTENP1 PTEN hamartoma tumor syndrome 100% RBM8A RBM8B Thrombocytopenia absent radius syndrome 100% RPS17 ≥ 16 pseudogenes Diamond-Blackfan anemia ~1% ... 6% homologous to STRC [ Vona et al 2015 ]. References Literature Cited Basgalupp SP, Siebert M, Vairo FP, ...
- ... w/thrombocytopenia or leukopenia Increased risk for malignancy Thrombocytopenia-absent radius syndrome (TAR) RBM8A 3 AR Bilateral absence of radii ... posted live 23 December 2003 (cb) Original submission References Literature Cited Allanson JE, Newbury-Ecob RA. Holt- ...
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