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98 results
  1. CLCN7-Related Osteopetrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1127
    ... optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental ... seizures and secondary hyperparathyroidism. Anemia and ... marrow cavity leads to extramedullary hematopoiesis, hepatosplenomegaly, anemia, and ...
  2. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... diagnosis of SDS in individuals with neutropenia included bone marrow abnormalities (hypocellularity, dysplasias, and clonality for deletion 20q11), as well as ...
  3. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... of metabolic decompensation patients can exhibit pancytopenia, with bone marrow hypoplasia and/or dysplasia that most frequently revert to normal with supportive ...
  4. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... bacterial infections Persistent neutropenia Arrested development of the bone marrow in the absence of other clinical findings of Wiskott-Aldrich syndrome ...
  5. NLM Digital Collections - 1987 Apr 12 
    https://resource.nlm.nih.gov/101647507X192
    ... AIDS. patients frequently experience hematopoietic abnormalities such as bone marrow dysplasia, anemia, thrombocytopenia, and leukopenia. It has been well ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... difficulty walking.</html:p><html:p >Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone marrow, which is the spongy tissue inside long bones ...
  7. Legius Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK47312
    ... 21 genes) 4 Fanconi anemia AR AD XL Bone marrow failure, skeletal limb malformations, microcephaly, malignancies GNAS Fibrous dysplasia/McCune-Albright syndrome See footnote 5. Fibrous bone ...
  8. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... as well as biopsy for cellularity Note: The bone marrow of individuals with FA can exhibit signs of dysplasia, such as nuclear/cytoplasmic dys-synchrony, hypo-lobulated ...
  9. X-Linked Severe Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1410
    ... reconstitution of the immune system is achieved through bone marrow transplant or gene therapy . In the absence of family history of X-SCID and prior ...
  10. NLM Digital Collections - Original articles 
    Publication: [Washington D.C.] : [Army Institute of Pathology], [1946?]
    resource.nlm.nih.gov/12620480R
    ... histologic characteristic of nonosteo- genic fibroma is the absence of metaplastic bone. However, the sections from three of the Discussion We shall now consider, first, the relation- ship of fibrous dysplasia to certain other condi- tions, namely, von Recklinghausen’s ...
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