Literature DB >> 3493095

Weill-Marchesani syndrome in mother and son.

I D Young, A R Fielder, T A Casey.   

Abstract

A mother and son, each showing the characteristic features of the Weill-Marchesani syndrome, are described. It is suggested that this family provides further evidence for genetic heterogeneity in this condition.

Entities:  

Mesh：

Year:  1986        PMID： 3493095     DOI： 10.1111/j.1399-0004.1986.tb01914.x

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


  5 in total

1.  Spherophakia, nanophthalmia, hypoplastic ciliary body and glaucoma in brachydactyly-associated syndromes.

Authors:  T S Dietlein; H Mietz; P C Jacobi; G K Krieglstein
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1996-08       Impact factor: 3.117

2.  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

3.  Histology of the lens in the Weill-Marchesani syndrome.

Authors:  H Fujiwara; Y Takigawa; S Ueno; K Okuda
Journal:  Br J Ophthalmol       Date:  1990-10       Impact factor: 4.638

4.  Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Authors:  Hannes Steinkellner; Julia Etzler; Laura Gogoll; Jürgen Neesen; Eva Stifter; Oliver Brandau; Franco Laccone
Journal:  Eur J Hum Genet       Date:  2014-12-03       Impact factor: 4.246

5.  ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.

Authors:  Ewa J Mularczyk; Mukti Singh; Alan R F Godwin; Francessco Galli; Neil Humphreys; Antony D Adamson; Aleksandr Mironov; Stuart A Cain; Gerhard Sengle; Ray P Boot-Handford; Giulio Cossu; Cay M Kielty; Clair Baldock
Journal:  Hum Mol Genet       Date:  2018-11-01       Impact factor: 6.150
  5 in total

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