نتایج جستجو برای: hutchinson gilford

تعداد نتایج: 1970  

N Adibi S Shamsadini S Zandi

Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance is unclear, although autosomal dominant mutations have been proposed. The disease presentation is usually in infancy and early childhood with a characteristic phenotype of short stature, abnormal skin and nail, beaked nose, loss of subcutaneous f...

Journal: :GSC Advanced Research and Reviews 2023

Hutchinson-Gilford Progeria Syndrome (HGPS) (Phenotype MIM number 176670) is an autosomal-dominant genetic disorder that leads to accelerated aging and often premature death caused by cardiovascular complications. HGPS origined abnormal Lamin A formation, directly a mutation in exon 11 of the LMNA gene. This syndrome characterized presence aging-associated symptoms, including lack subcutaneous ...

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