Literature DB >> 2721021

Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance.

M M Khalifa1.   

Abstract

A Libyan family with the Hutchinson-Gilford progeria syndrome affecting three children of two sisters is described. The proband was ascertained because of repeated unhealing fractures. The pattern of inheritance appeared autosomal recessive.

Entities:  

Mesh：

Year:  1989        PMID： 2721021     DOI： 10.1111/j.1399-0004.1989.tb02917.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

Review 1.  Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.

Authors:  Muhammad Saad Ahmed; Sana Ikram; Nousheen Bibi; Asif Mir
Journal:  Mol Neurobiol       Date:  2017-06-28       Impact factor: 5.590

Review 2.  Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases.

Authors:  J U Monu; L B Benka-Coker; Y Fatunde
Journal:  Skeletal Radiol       Date:  1990       Impact factor: 2.199

Review 3.  The posttranslational processing of prelamin A and disease.

Authors:  Brandon S J Davies; Loren G Fong; Shao H Yang; Catherine Coffinier; Stephen G Young
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

4.  Progeria in siblings: a rare case report.

Authors:  R Sowmiya; D Prabhavathy; S Jayakumar
Journal:  Indian J Dermatol       Date:  2011 Sep-Oct       Impact factor: 1.494

5.  Generation of a Hutchinson-Gilford progeria syndrome monkey model by base editing.

Authors:  Fang Wang; Weiqi Zhang; Qiaoyan Yang; Yu Kang; Yanling Fan; Jingkuan Wei; Zunpeng Liu; Shaoxing Dai; Hao Li; Zifan Li; Lizhu Xu; Chu Chu; Jing Qu; Chenyang Si; Weizhi Ji; Guang-Hui Liu; Chengzu Long; Yuyu Niu
Journal:  Protein Cell       Date:  2020-07-29       Impact factor: 14.870

6.  Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.

Authors:  Zhimin Xiong; Yanmei Lu; Jinjie Xue; Sanchuan Luo; Xiaojuan Xu; Lusi Zhang; Hao Peng; Wei Li; Dengming Chen; Zhengmao Hu; Kun Xia
Journal:  J Med Case Rep       Date:  2013-03-08

7.  Hutchinson-gilford progeria syndrome: a rare genetic disorder.

Authors:  Rajat G Panigrahi; Antarmayee Panigrahi; Poornima Vijayakumar; Priyadarshini Choudhury; Sanat K Bhuyan; Ruchi Bhuyan; G Maragathavalli; Abhishek Ranjan Pati
Journal:  Case Rep Dent       Date:  2013-10-30
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.