Literature DB >> 975740

Progeria in siblings.

P P Franklyn.   

Abstract

Progeria or 'prematurely old' is an autosomal recessive trait that appears insidiously at or after the age of 6 months. Two affected siblings are reported showing radiologically progressive attenuation of the clavicles and terminal phalanges, widening of cranial sutures and mandibular hypoplasia. Scleroderma was also present. Out of 59 previously published cases five had scleroderma before the age of 2 years. Only three families with affected siblings have been previously recorded.

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Year:  1976        PMID: 975740     DOI: 10.1016/s0009-9260(76)80082-7

Source DB:  PubMed          Journal:  Clin Radiol        ISSN: 0009-9260            Impact factor:   2.350


  3 in total

1.  Skeletal muscle contractile function and neuromuscular performance in Zmpste24 -/- mice, a murine model of human progeria.

Authors:  Sarah M Greising; Jarrod A Call; Troy C Lund; Bruce R Blazar; Jakub Tolar; Dawn A Lowe
Journal:  Age (Dordr)       Date:  2011-06-29

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

3.  Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis.

Authors:  W T Brown; G J Darlington
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

  3 in total

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