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1 article for “LMNA gene mutation”
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Progeria Syndrome Unveiled: A Scientific Odyssey into Premature Aging Mechanisms and Therapeutic Frontiers
Abstract: Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and fatal genetic disorder in childhood, exhibiting features akin to premature aging. Despite normal appearances in infancy, affected children face accelerated aging with distinct facial characteristics, including micrognathia, dental malformations, lower body weight, early hair loss, decreased joint mobility, lipodystrophy, etc. The cause of HGPS is a point mutation that occurs at the exon 11 of the LMNA gene which normally …
Published in Research and Reviews: A Journal of Health Professions · Vol. 14, Issue 2, 2024 · pp. 52–68 Read article