Literature DB >> 2389799

Hutchinson-Gilford progeria: familial occurrence.

H Parkash1, S S Sidhu, R Raghavan, R N Deshmukh.   

Abstract

We report on 2 brothers with Hutchinson-Gilford progeria. These patients have 2 unusual findings, i.e., marked resorption of the mandible along with loss of teeth in the elder sib and prolonged survival. Both sibs are still alive and active at the age of 32 and 24 years.

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Year:  1990        PMID: 2389799     DOI: 10.1002/ajmg.1320360411

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


  1 in total

1.  LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Authors:  Henian Cao; Robert A Hegele
Journal:  J Hum Genet       Date:  2003-04-03       Impact factor: 3.172

  1 in total

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