TY - JOUR
T1 - Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus
AU - Reichel, M.
AU - Grix, A. C.
AU - Isseroff, Roslyn Rivkah
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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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M3 - Article
C2 - 1376473
AN - SCOPUS:0026509150
VL - 9
SP - 103
EP - 106
JO - Pediatric Dermatology
JF - Pediatric Dermatology
SN - 0736-8046
IS - 2
ER -