Literature DB >> 6467666

Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance.

R Pallotta, G Morgese.   

Abstract

Mandibuloacral Dysplasia would appear to be a very rare syndrome, probably because it is usually mistakenly diagnosed. This article describes the case histories of two brothers, confirming Welsh's (1975) earlier hypothesis concerning autosomal recessive inheritance and makes certain observations which should be helpful in diagnosing this rare hereditary syndrome.

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Year:  1984        PMID: 6467666     DOI: 10.1111/j.1399-0004.1984.tb00803.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.

Authors:  Camilla Evangelisti; Pia Bernasconi; Paola Cavalcante; Cristina Cappelletti; Maria Rosaria D'Apice; Paolo Sbraccia; Giuseppe Novelli; Sabino Prencipe; Silvia Lemma; Nicola Baldini; Sofia Avnet; Stefano Squarzoni; Alberto M Martelli; Giovanna Lattanzi
Journal:  Oncotarget       Date:  2015-04-10
  1 in total

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