Open AccessClinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report
Author(s) -
Suli Zhang,
Lin Song,
Yanqiu Zhou,
Wanqi Wang,
Jiayi Li,
Cui Wang,
Qi-Ming Pang
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i15.5018
Subject(s) - lmna , progeria , medicine , sanger sequencing , mutation , gene mutation , genetics , genetic counseling , gene , biology
This case report describes a child with Hutchinson-Gilford progeria syndrome (HGPS, OMIM: 176670) caused by LMNA (OMIM: 150330) gene mutation, and we have previously analyzed the clinical manifestations and imaging characteristics of this case. After 1-year treatment and follow-up, we focus on analyzing the changes in the clinical manifestations and genetic diagnosis of the patient.