Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

Search help

53 results

  1. Thrombocytopenia Absent Radius Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK23758
    ... Search term GeneReviews Advanced Search Help < Prev Next > Thrombocytopenia Absent Radius Syndrome Synonym: TAR Syndrome Florence Petit , MD, PhD and ... here . Table 1. Molecular Genetic Testing Used in Thrombocytopenia Absent Radius Syndrome View in own window Gene 1 Method Proportion ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Thrombocytopenia-absent radius syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  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. FREM1 Autosomal Recessive Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1728
    ... T, Longo N, Blau N. GeneReviews(®). 1993 Review Thrombocytopenia Absent Radius Syndrome. [GeneReviews(®). 1993] Review Thrombocytopenia Absent Radius Syndrome. Petit ...
  5. 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 ...
  6. 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. [ ...
  7. Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1111
    ... malformations Impaired kidney function Hearing impairment RBM8A 4 Thrombocytopenia absent radius syndrome See footnote 4. Bilateral absence of radii CHD ...
  8. Bleeding Disorders 
    https://medlineplus.gov/bleedingdisorders.html
    With bleeding disorders, there is a problem with blood clotting. It may be hard to stop the bleeding. Read about bleeding disorders and treatments. ... Normally, if ...
  9. 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% ...
  10. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... October 24, 2003; Last Update: July 28, 2022. Thrombocytopenia Absent Radius Syndrome Florence Petit and Simon Boussion. Initial Posting: December ...
first · previous · 1 · 2 · 3 · 4 · 5 · next · last