Treatment of the hematological manifestations of dyskeratosis congenita
β Scribed by C. Putterman; R. Safadi; J. Zlotogora; R. Banura; A. Eldor
- Book ID
- 105282457
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 862 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0939-5555
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Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive family with the condition using the Xg blood group and 17 cloned X chromo
Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy 1,2 . X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is