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15 results
  1. Thrombocytopenia Absent Radius Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK23758
    ... 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 ...
  2. Bleeding Disorder | MedlinePlus 
    https://medlineplus.gov/bleedingdisorders.html
    ... Stormorken syndrome: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome</url><title >Thrombocytopenia-absent radius syndrome</title><other_ ...
  4. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... neurofibromas, iris Lisch nodules, choroidal freckling RBM8A 2 Thrombocytopenia absent radius syndrome AR Not assoc w/chromosome breakage Bilateral absence ...
  5. Baller-Gerold Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1204
    ... 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 ...
  6. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... 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, ...
  7. Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1111
    ... 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- ...
  8. Char Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1106
    ... distinctive facies; variable visceral, skeletal, & neurodevelopmental abnormalities RBM8A Thrombocytopenia-absent radius syndrome AR Present in 15%-22% of affected persons ( ...
  9. ESCO2 Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1153
    ... but also the entire sister chromatids). 5 RBM8A Thrombocytopenia-absent radius (TAR) syndrome AR Bilateral absence of radii w/presence of ... posted live 2 December 2005 (ewj) Original submission References Literature Cited Banerji R, Eble DM, Iovine MK, ...
  10. SALL4-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1373
    ... aplasia has not been observed in TBS. RBM8A Thrombocytopenia absent radius (TAR) syndrome AR Bilateral absence of radii; other skeletal, cardiac, & ... posted live 1 March 2004 (jk) Original submission References Literature Cited Al-Baradie R, Yamada K, St ...
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