0 references
Hutchinson Gilford progeria syndrome
Journal of Dr. YSR University of Health Sciences.2012Vol. 1(2), pp. 120–121
Abstract
Progeria is a rare disease with short stature and premature aging. The incidence is 1 in 8 million. Though the clinical features are typical, conventional biochemical and radiological features help in confirming the diagnosis. We present a rare case of short-statured female with features of aging and skin manifestations, suggestive of progeria.
Related Papers
- → Hutchinson–Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody(2006)195 cited
- → Ghrelin delays premature aging in Hutchinson‐Gilford progeria syndrome(2023)15 cited
- → Hutchinson–Gilford syndrome (Progeria) with heterozygous mutation in the LMNA Gene-ENST00000368300.9 presenting with mandibuloacral dysplasia and acrogeroid features—overlap of premature aging syndromes(2022)1 cited
- [The role of lamins and mutations of LMNA gene in physiological and premature aging].(2007)
- → Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome(2023)