Progeria risk factors: Difference between revisions
Jump to navigation
Jump to search
Line 9: | Line 9: | ||
==Risk Factors== | ==Risk Factors== | ||
* The most potent risk factor in the development of [[Hutchinson-Gilford progeria syndrome]] is [[mutation]] in [[LMNA]] [[gene]].<ref name="pmid12714972">{{cite journal| author=Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L et al.| title=Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | journal=Nature | year= 2003 | volume= 423 | issue= 6937 | pages= 293-8 | pmid=12714972 | doi=10.1038/nature01629 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12714972 }}</ref><ref name="pmid154791792">{{cite journal| author=Pollex RL, Hegele RA| title=Hutchinson-Gilford progeria syndrome. | journal=Clin Genet | year= 2004 | volume= 66 | issue= 5 | pages= 375-81 | pmid=15479179 | doi=10.1111/j.1399-0004.2004.00315.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15479179 }}</ref><ref name="pmid12768443">{{cite journal| author=Cao H, Hegele RA| title=LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). | journal=J Hum Genet | year= 2003 | volume= 48 | issue= 5 | pages= 271-4 | pmid=12768443 | doi=10.1007/s10038-003-0025-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12768443 }}</ref> | * The most potent risk factor in the development of [[Hutchinson-Gilford progeria syndrome]] is [[mutation]] in [[LMNA]] [[gene]].<ref name="pmid12714972">{{cite journal| author=Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L et al.| title=Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | journal=Nature | year= 2003 | volume= 423 | issue= 6937 | pages= 293-8 | pmid=12714972 | doi=10.1038/nature01629 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12714972 }}</ref><ref name="pmid154791792">{{cite journal| author=Pollex RL, Hegele RA| title=Hutchinson-Gilford progeria syndrome. | journal=Clin Genet | year= 2004 | volume= 66 | issue= 5 | pages= 375-81 | pmid=15479179 | doi=10.1111/j.1399-0004.2004.00315.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15479179 }}</ref><ref name="pmid12768443">{{cite journal| author=Cao H, Hegele RA| title=LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). | journal=J Hum Genet | year= 2003 | volume= 48 | issue= 5 | pages= 271-4 | pmid=12768443 | doi=10.1007/s10038-003-0025-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12768443 }}</ref><ref name="pmid17459035">{{cite journal| author=Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ et al.| title=Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. | journal=Br J Dermatol | year= 2007 | volume= 156 | issue= 6 | pages= 1308-14 | pmid=17459035 | doi=10.1111/j.1365-2133.2007.07897.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17459035 }}</ref> | ||
*Other than [[Genetics|genetic]] there are no other [[Risk factor|risk factors]] mentioned | *Other than [[Genetics|genetic]] there are no other [[Risk factor|risk factors]] mentioned | ||
Latest revision as of 15:11, 14 August 2019
Progeria Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Progeria risk factors On the Web |
American Roentgen Ray Society Images of Progeria risk factors |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The most potent risk factor in the development of Hutchinson-Gilford progeria syndrome is mutation in LMNA gene.
Risk Factors
- The most potent risk factor in the development of Hutchinson-Gilford progeria syndrome is mutation in LMNA gene.[1][2][3][4]
- Other than genetic there are no other risk factors mentioned
References
- ↑ Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L; et al. (2003). "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome". Nature. 423 (6937): 293–8. doi:10.1038/nature01629. PMID 12714972.
- ↑ Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
- ↑ Cao H, Hegele RA (2003). "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)". J Hum Genet. 48 (5): 271–4. doi:10.1007/s10038-003-0025-3. PMID 12768443.
- ↑ Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ; et al. (2007). "Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature". Br J Dermatol. 156 (6): 1308–14. doi:10.1111/j.1365-2133.2007.07897.x. PMID 17459035.