Statements in which the resource exists.
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pubmed-article:8060427pubmed:abstractTextA patient with unusual Hutchinson-Gilford syndrome (progeria) is reported. This 7-year-old boy had all the characteristics of progeria, except for coxa valga and the "horse-riding" stance. A previous cerebral infarction was detected in the right putamen on cranial magnetic resonance imaging. During treadmill exercise test electrocardiography, ST depression suggested the existence of arteriosclerotic lesions. Skin fibroblast culture exhibited 76% DNA-repair capacity compared to normal. He has not manifested endocrinologic abnormalities. From these findings it is concluded that this patient has an incomplete case of Hutchinson-Gilford syndrome and that a correlation may exist between the clinical features and the degree of DNA-repair capacity.lld:pubmed
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pubmed-article:8060427pubmed:articleTitlePatient with unusual Hutchinson-Gilford syndrome (progeria).lld:pubmed
pubmed-article:8060427pubmed:affiliationDepartment of Pediatrics, Children's Research Hospital, Kyoto, Japan.lld:pubmed
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