Literature DB >> 20827016

Hutchinson-Gilford progeria syndrome.

Uma Shankar Agarwal1, S Sitaraman, Sharad Mehta, Gauri Panse.   

Abstract

Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and sclerodermatous changes. The present case is reported due to its rarity.

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Year:  2010        PMID: 20827016     DOI: 10.4103/0378-6323.69094

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN: 0378-6323            Impact factor:   2.545


  3 in total

1.  Madarosis: a marker of many maladies.

Authors:  Annapurna Kumar; Kaliaperumal Karthikeyan
Journal:  Int J Trichology       Date:  2012-01

2.  Hutchinson-Gilford progeria syndrome with G608G LMNA mutation.

Authors:  Hui Kwon Kim; Jong Yoon Lee; Eun Ju Bae; Phil Soo Oh; Won Il Park; Dong Sung Lee; Jong-Il Kim; Hong Jin Lee
Journal:  J Korean Med Sci       Date:  2011-11-29       Impact factor: 2.153

3.  iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis.

Authors:  Jesús Mateos; Arancha Landeira-Abia; Juan Antonio Fafián-Labora; Pablo Fernández-Pernas; Iván Lesende-Rodríguez; Patricia Fernández-Puente; Mercedes Fernández-Moreno; Aitor Delmiro; Miguel A Martín; Francisco J Blanco; María C Arufe
Journal:  Stem Cell Res Ther       Date:  2015-06-12       Impact factor: 6.832

  3 in total

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