Otologic and audiologic manifestations of hutchinson‐gilford progeria syndrome

E Guardiani, C Zalewski, C Brewer… - The …, 2011 - Wiley Online Library
Abstract Objectives/Hypothesis: To define the audiologic and otologic phenotype of
Hutchinson‐Gilford progeria syndrome (HGPS). Study Design: Prospective case series …

Hutchinson–Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report

Y Chu, ZG Xu, Z Xu, L Ma - Pediatric dermatology, 2015 - Wiley Online Library
Hutchinson–Gilford progeria syndrome is a rare genetic disorder characterized by
premature aging of the skin, bones, heart, and blood vessels. We report a 6‐year‐old boy …

Skeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study

A Tsai, PR Johnston, LB Gordon, M Walters… - The Lancet Child & …, 2020 - thelancet.com
Summary Background Hutchinson-Gilford progeria syndrome (termed progeria in this
Article) is a rare sporadic genetic disorder. One early clinical manifestation of progeria is …

[HTML][HTML] Expression of the hutchinson-gilford progeria mutation leads to aberrant dentin formation

H Choi, TH Kim, JK Jeong, C Strandgren, M Eriksson… - Scientific Reports, 2018 - nature.com
Hutchinson-Gilford progeria syndrome (HGPS) is a rare accelerated senescence disease,
manifesting dental abnormalities and several symptoms suggestive of premature aging …

Pubertal progression in female adolescents with progeria

MM Greer, ME Kleinman, LB Gordon, J Massaro… - Journal of pediatric and …, 2018 - Elsevier
Abstract Study Objective This study identified the prevalence of menarche and coincident
sexual characteristics in female adolescents with Hutchinson-Gilford Progeria Syndrome …

[HTML][HTML] Discordant gene expression signatures and related phenotypic differences in lamin A-and A/C-related Hutchinson-Gilford progeria syndrome (HGPS)

M Plasilova, C Chattopadhyay, A Ghosh, F Wenzel… - PLoS …, 2011 - journals.plos.org
Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disorder displaying features
reminiscent of premature senescence caused by germline mutations in the LMNA gene …

Hutchinson–Gilford progeria syndrome: clinical and molecular characterization

H Pachajoa, A Claros-Hulbert… - The Application of …, 2020 - Taylor & Francis
Hutchinson–Gilford progeria syndrome (HGPS) is a rare congenital disease caused by
mutations in the LMNA gene. Children with HGPS are phenotypically characterized by …

[HTML][HTML] Impact of MnTBAP and Baricitinib Treatment on Hutchinson–Gilford Progeria Fibroblasts

E Vehns, R Arnold, K Djabali - Pharmaceuticals, 2022 - mdpi.com
Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging disease. It is
caused by a mutation in the LMNA gene, which results in a 50-amino-acid truncation of …

[HTML][HTML] Hutchinson-Gilford progeria syndrome with G608G LMNA mutation

HK Kim, JY Lee, EJ Bae, PS Oh… - Journal of Korean …, 2011 - synapse.koreamed.org
Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by
Hutchinson in 1886. Death result from cardiac complications in the majority of cases and …

Hutchinson‐Gilford Progeria syndrome: report of the first Togolese case

KM Guedenon, Y Doubaj, DAE Akolly… - American Journal of …, 2020 - Wiley Online Library
The aim of this article is to describe the first case of Hutchinson‐Gilford Progeria Syndrome
(HGPS) in Togo and review all Africans cases. Our patient was a 12.8‐year‐old Togolese …