RMRP mutations in hematological disorders
نویسندگان
چکیده
منابع مشابه
"موارد طحال برداری در بیماریهای خونی"splenectomy in hematological disorders" "
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Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. Molecular diagnosis of CHH has implications for management, prognosis, follow-up, and genetic counseling of affected pati...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2007
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2007.00776.x