Dyskeratosis Congenita Associated with Elevated Fetal Hemoglobin, X-Linked Ocular Albinism, and Juvenile-Onset Diabetes Mellitus |
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Authors: | Martin Reichel MD Arthur C Grix MD R Rivkah Isseroff MD |
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Institution: | Department of Dermatology, University of California, School of Medicine, Davis 95616. |
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Abstract: | An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita. |
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