| Literature DB >> 19938095 |
Luis C Morales1, Gonzalo Arboleda, Yeldy Rodríguez, Diego A Forero, Nelson Ramírez, Juan J Yunis, Humberto Arboleda.
Abstract
The Wiedemann-Rautenstrauch syndrome (WRS, OMIM: 264090) characterizes a premature aging syndrome in which several features of aging are apparent at birth. We did not find mutations in Lamin A/C (LMNA) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson-Gilford progeria (OMIM 176670). These findings suggest that WRS represents a distinct progeroid entity that may be caused by recessive mutations of a different gene.Entities:
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Year: 2009 PMID: 19938095 DOI: 10.1002/ajmg.a.33090
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802