Literature DB >> 17670292

Two patients with Weill-Marchesani syndrome and mitral stenosis.

Pieter C van de Woestijne1, A Derk-Jan Ten Harkel, Ad J J C Bogers.   

Abstract

Recently we performed a mitral valve reconstruction in two young brothers with Weill-Marchesani syndrome and congenital mitral valve stenosis.

Entities:  

Year:  2004        PMID： 17670292     DOI： 10.1016/j.icvts.2004.04.004

Source DB:  PubMed          Journal:  Interact Cardiovasc Thorac Surg        ISSN： 1569-9285


  2 in total

1.  Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Authors:  Alana Cecchi; Naomi Ogawa; Hugo R Martinez; Alicia Carlson; Yuxin Fan; Daniel J Penny; Dong-chuan Guo; Steven Eisenberg; Hazim Safi; Anthony Estrera; Richard A Lewis; Deborah Meyers; Dianna M Milewicz
Journal:  Am J Med Genet A       Date:  2013-07-29       Impact factor: 2.802

Review 2.  Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.

Authors:  Pauline Arnaud; Zakaria Mougin; Catherine Boileau; Carine Le Goff
Journal:  Front Genet       Date:  2021-11-29       Impact factor: 4.599
  2 in total

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