Literature DB >> 4239018

The Marchesani syndrome. A brief review.

O M Rennert.   

Abstract

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Year:  1969        PMID： 4239018     DOI： 10.1001/archpedi.1969.02100030705016

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  2 in total

1.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Authors:  Jose Morales; Latifa Al-Sharif; Dania S Khalil; Jameela M A Shinwari; Prashant Bavi; Rahima A Al-Mahrouqi; Ali Al-Rajhi; Fowzan S Alkuraya; Brian F Meyer; Nada Al Tassan
Journal:  Am J Hum Genet       Date:  2009-11       Impact factor: 11.025

2.  Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.

Authors:  Mohd Hussain Shah; Vishwanath Bhat; Jyoti S Shetty; Arun Kumar
Journal:  Mol Vis       Date:  2014-06-12       Impact factor: 2.367
  2 in total

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