Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Autor: Iti Varshney, Mohammad Adil, Syed Suhail Amin, Mohd Mohtashim, Annu Priya, Mahtab Alam

Publikováno v: Przegląd Dermatologiczny, Vol 107, Iss 2, Pp 179-183 (2020)

Hutchinson-Gilford progeria syndrome is an extremely rare genetic disorder characterized by premature ageing involving the skin, bones, heart, and blood vessels. The incidence is 1 in several million births. It occurs sporadically and is probably an

Externí odkaz: https://doaj.org/article/981657b82b6546849b82dfb67aba466e

Hutchinson-Gilford progeria syndrome: a rare premature ageing syndrome

Autor: Mohammad Adil, Mohd Mohtashim, Syed Suhail Amin, Iti Varshney, Mahtab Alam, Annu Priya

Publikováno v: Przegląd Dermatologiczny, Vol 107, Iss 2, Pp 179-183 (2020)

Hutchinson-Gilford progeria syndrome is an extremely rare genetic disorder characterized by premature ageing involving the skin, bones, heart, and blood vessels. The incidence is 1 in several million births. It occurs sporadically and is probably an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8161ce28ada08a893fdca6a4e3c352ac
https://doi.org/10.5114/dr.2020.96361

Werner’s syndrome: A case report and review of literature

Autor: Jolika Ardeshana, Sridevi Raichur, Farhana Tahseen Taj, Divya Vupperla

Publikováno v: Nasza Dermatologia Online, Vol 9, Iss 2, Pp 148-151 (2018)

Werner’s Syndrome also known as Pangeria is an autosomal recessive disorder characterized by premature aging, increased risk of malignancies and atherosclerosis. The Global incidence rate is less than 1 in 100,000 live births. The incidence is high

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3634e1ce94c23d81f7b19a036f0d2d7c
http://www.odermatol.com/issue-in-html/2018-2-10-werner/

Síndrome de Werner atípico: síndrome progeroide atípico

Autor: A. Barrios Sanjuanelo, C. Muñoz Otero

Publikováno v: Anales de Pediatría, Vol 73, Iss 2, Pp 94-97 (2010)

Resumen: La progeria es un síndrome de envejecimiento precoz. El síndrome de Werner (SW) es un tipo de progeria del adulto que cursa con cataratas juveniles bilaterales y cambios esclerodermiformes cutáneos. Se produce a causa de la mutación del

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d70700ff6aad9469a300799831e4f436
https://doi.org/10.1016/j.anpedi.2010.02.012

A common French-Italian laminopathy registry – update & future prospects

Autor: Rabah Ben Yaou, Gisèle Bonne

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10 (Suppl 2), pp.O31. ⟨10.1186/1750-1172-10-S2-O31⟩
Orphanet Journal of Rare Diseases, 2015, 10 (Suppl 2), pp.O31. ⟨10.1186/1750-1172-10-S2-O31⟩
BASE-Bielefeld Academic Search Engine

In front of the wide clinical and genetic heterogeneity of the laminopathies, the first task of the French Network on EDMD and other related nuclear envelope related diseases, has been to set up in 2000, a mutation database for LMNA and EMD mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7255c8741fc4432962adfc29af3730e1
https://hal.sorbonne-universite.fr/hal-01227847