نتایج جستجو برای: cockayne syndrome

تعداد نتایج: 621994  

Journal: :The Journal of investigative dermatology 2015
Raymond J Monnat

The growing diversity of heritable skin diseases, a practical challenge to clinicians and dermato-nosologists alike, has nonetheless served as a rich source of insight into skin biology and disease mechanisms. I summarize below some key insights from the recent gene-driven phase of research on Werner syndrome, a heritable adult progeroid syndrome with prominent dermatologic features, constituti...

2012

Premature aging diseases or progerias are rare genetical disorders displaying symptoms of the aging body early in life or even in childhood. They are called segmental because they show some, but not all features of aging. There is the progeria of the adult, Werner syndrome and, more severe because limiting lifespan to the first or second decade, the progerias of the childhood, Cockayne syndrome...

Journal: :Indian pediatrics 2011
J P Narayan P Garg G Pareek S Narayan

Wiedemann Rautenstauch (WR) syndrome is a rare autosomal recessive neonatal progeroid syndrome with only few published case reports. We describe a neonate showing clinical features of WR syndrome with peeling of skin, and presented with weak cry and breathing difficulty since birth.

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