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343 results
  1. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities. Diagnosis/testing. The diagnosis of a WAS -related disorder is established in a male proband with both congenital thrombocytopenia (<70,000 platelets/mm 3 ) and small platelets, in addition to ...
  2. NLM Digital Collections - MEDLARS indexing and searching aids 
    Publication: Springfield, Va. : National Technical Information Service, 1972
    resource.nlm.nih.gov/0367351
    ... physiopathol (IM) INTESTINAL OBSTRUCTION (IM) Oguchi's disease HEMERALOPIA Congenital (IM) AUTOSOME ABNORMALITIES (IM) O'Higgins' disease LEUKOPENIA (IM) BLOOD COAGULATION DISORDERS (IM) BLOOD PLATELET DISORDERS (IM) CHOLESTEROL Clood (IM) HYPOCALCEMIA (NIM) EQUILIBRIUM ( ...
  3. pdf2022NewheadingsbycategorywithScopeNotes.pdf 
    https://www.nlm.nih.gov/...22NewheadingsbycategorywithScopeNotes.pdf
    ... between HEMOSTASIS and INNATE IMMUNE RESPONSES modulated by PLATELETS. It is ... Term Ms Focal Facial Dermal Dysplasias A heterogenous ...
  4. Glanzmann thrombasthenia 
    https://medlineplus.gov/ency/article/001305.htm
    ... surface of platelets. This substance is needed for platelets to clump together to plug up bleeding spots and begin forming a clot. The condition is congenital, which means it is present from birth. There are several genetic abnormalities that can cause the condition.
  5. Aicardi-Goutières syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome
    ... liver enzymes, a shortage of blood cells called platelets that are needed for ... at birth (congenital), no actual infection is found in these infants. ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... liver enzymes, a shortage of blood cells called platelets that are needed for ... at birth (congenital), no actual infection is found in these infants. ...
  7. Noonan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1124
    ... Noonan syndrome from diverse ethnic backgrounds. Short ... may show abnormalities. Specific testing should identify the particular coagulation defect, ...
  8. NLM Digital Collections - Surgeon's circular letter (Volume VI, Number 9, September 1, 1951) 
    resource.nlm.nih.gov/22210360RX45
    ... fibrinogen decreased. 2. Prothrombin time prolonged. Hepatic disease. Congenital ... Thrombocytopenia 1. Platelets decreased. 2. Clot retraction time ...
  9. Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1111
    ... radii w/presence of both thumbs Thrombocytopenia (<50 platelets/nL), ... incl palatal abnormalities (69%), learning difficulties (70%-90), & immune deficiency (77%), ...
  10. Congenital platelet function defects 
    https://medlineplus.gov/ency/article/000582.htm
    Congenital platelet function defects are conditions that prevent clotting elements in the blood, called platelets, from working as ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with ...
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