TY - JOUR
T1 - Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome
AU - Yaghmai, Reza
AU - Kimyai-Asadi, Arash
AU - Rostamiani, Karoline
AU - Heiss, Nina S.
AU - Poustka, Annemarie
AU - Eyaid, Wafaa
AU - Bodurtha, Joann
AU - Nousari, Hossein C.
AU - Hamosh, Ada
AU - Metzenberg, Aida
PY - 2000
Y1 - 2000
N2 - X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.
AB - X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.
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U2 - 10.1067/mpd.2000.104295
DO - 10.1067/mpd.2000.104295
M3 - Article
C2 - 10700698
AN - SCOPUS:0033929321
SN - 0022-3476
VL - 136
SP - 390
EP - 393
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 3
ER -