Literature DB >> 10594888

Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

L Faivre, P Khau Van Kien, N Madinier-Chappat, A Nivelon-Chevallier, F Beer, M LeMerrer.   

Abstract

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Year:  1999        PMID： 10594888     DOI： 10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

Review 1.  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

2.  De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Authors:  Karin Writzl; Ales Maver; Lidija Kovačič; Paula Martinez-Valero; Laura Contreras; Jorgina Satrustegui; Marco Castori; Laurence Faivre; Pablo Lapunzina; André B P van Kuilenburg; Slobodanka Radović; Christel Thauvin-Robinet; Borut Peterlin; Araceli Del Arco; Raoul C Hennekam
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

3.  A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

Authors:  Jaehui Ryu; Jung Min Ko; Choong-Ho Shin
Journal:  BMC Med Genet       Date:  2019-11-27       Impact factor: 2.103
  3 in total

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