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Hutchinson–Gilford progeria syndrome: Review of the phenotype [PDF]
American Journal of Medical Genetics Part A, 2006 AbstractHutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise.
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Stem Cell ResearchLamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu +6 more
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Hutchinson-Gilford progeria syndrome
Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 2021 openaire +3 more sources
Laporan kasus: Gizi Buruk Sekunder Akibat Kelainan Genetik: Hutchinson-Gilford Progeria Syndrome [PDF]
, 2018 AbstrakPertumbuhan dan perkembangan adalah fenomena khas yang terjadi pada populasi anak, dibutuhkan pemantauansecara berkala untuk mendeteksi masalah pada asupan nutrisi atau kemungkinan penyakit lainnya.
Hutagaol, Dion D. Samsudin +1 more
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Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
The Application of Clinical Genetics, 2020 Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H +5 more
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Expansion Microscopy: A Tool to Investigate Hutchinson-Gilford Progeria Syndrome at Molecular Level
, 2018 Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder characterized by premature aging symptom in children and early death. It is often used as model to understand the molecular mechanism of aging.
Luca Pesce +9 more
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Hutchinson–Gilford Progeria Syndrome [PDF]
New England Journal of Medicine, 2008 openaire +3 more sources
The Application of a Statistical Model Investigating Reactive Oxygen Species in Premature Ageing Syndromes [PDF]
, 2011 The premature ageing syndromes Hutchison-Gilford Progeria Syndrome (HGPS) and Restrictive Dermopathy (RD) are rare genetic disorders that result in greatly accelerated ageing. RD is neonatal fatal, whereas children suffering from HGPS age approximately 8
MUTER, JOANNE,RUTH
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The Medical Mystery of Progeria
, 2017 The thesis deals with Progeria or Hutchinson-Gilford syndrome, the disease of very rapid aging resulting in tightened skin, paucity of subcutaneous fat around the eyes, cataracts, arteriosclerosis and unique skeletal ...
Getmanets, Iryna, Artemenko, Margaryta
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