title: Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.
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.
authors.affiliation: Department of Dermatology, University of California, School of Medicine, Davis 95616.
authors.forename: M
authors.initials: M
authors.lastname: Reichel
authors.forename: A C
authors.initials: AC
authors.lastname: Grix
authors.forename: R R
authors.initials: RR
authors.lastname: Isseroff
mesh_terms: D016117:Albinism, Ocular / Q000235:genetics*; D001249:Asthma / Q000150:complications; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D005319:Fetal Hemoglobin / Q000032:analysis*; D008040:Genetic Linkage; D006801:Humans; D007971:Leukoplakia / Q000151:congenital*; D008297:Male; D009260:Nail Diseases / Q000151:congenital*; D011038:Rothmund-Thomson Syndrome / Q000097:blood / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005319:Fetal Hemoglobin