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Problems of Endocrinology
Article . 1995 . Peer-reviewed
License: CC BY NC SA
Data sources: Crossref
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Problems of Endocrinology
Article
License: CC BY NC SA
Data sources: UnpayWall
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Syndrome Hutchinson-Gilford (progeria)

Authors: O. V. Fofanova;

Syndrome Hutchinson-Gilford (progeria)

Abstract

Gatchinson-Guildford syndrome or progeria (senile dwarfism) is an extremely rare genetic disease in children with clinical features of premature aging. The frequency of the disease is 1 in 8 million newborns (De Busk. 1972). To date, about 70 patients with this syndrome have been described in world literature. The etiology of progeria is unclear. The genetic model of inheritance is unknown due to the extreme rarity of the syndrome and the absence of offspring in patients. However, studies by foreign scientists allow us to talk about sporadic dominant mutation as the genetic basis of this syndrome. The clinical picture of progeria is represented by symptoms of progressive premature aging. Characteristic face: exophthalmos, a thin coracoid nose, a large brain and small facial skull, a thin voice, skeletal anomalies. Puberty usually does not occur; external genitalia hypoplasia. Intelligence average or above average. This syndrome is characterized by widespread atherosclerosis with lesions of coronary and mesenteric vessels, aorta, cerebral vessels, with hyperlipidemia. Progeria as a model of premature aging is studied in various aspects: metabolic, hormonal, histological, immunological, molecular.

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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    5
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
5
Average
Average
Average
gold