Literature DB >> 17480005

Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome.

M A M van Steensel1, R P M Ceulen, T Delhaas, C de Die-Smulders.   

Abstract

In 1993, Borrone et al. described two Italian brothers affected by a syndrome of severe acne, mitral valve prolapse, dysmorphic facies, and Scheuermann-like changes of the vertebral column. Since then, no further cases have been reported. Here, we report on two Dutch brothers with many features suggestive of this rare syndrome. Copyright (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID： 17480005     DOI： 10.1002/ajmg.a.31719

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  5 in total

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Authors:  Elyse K Paterson; Sara A Courtneidge
Journal:  FEBS J       Date:  2017-06-22       Impact factor: 5.542

2.  Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Authors:  Gabrielle R Wilson; Jasmine Sunley; Katherine R Smith; Kate Pope; Catherine J Bromhead; Elizabeth Fitzpatrick; Maja Di Rocco; Maurice van Steensel; David J Coman; Richard J Leventer; Martin B Delatycki; David J Amor; Melanie Bahlo; Paul J Lockhart
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246

3.  Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Authors:  Ivo J H M de Vos; Evelyn Yaqiong Tao; Sheena Li Ming Ong; Julian L Goggi; Thomas Scerri; Gabrielle R Wilson; Chernis Guai Mun Low; Arnette Shi Wei Wong; Dominic Grussu; Alexander P A Stegmann; Michel van Geel; Renske Janssen; David J Amor; Melanie Bahlo; Norris R Dunn; Thomas J Carney; Paul J Lockhart; Barry J Coull; Maurice A M van Steensel
Journal:  Hum Mol Genet       Date:  2018-08-15       Impact factor: 6.150

4.  Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations.

Authors:  Hanan Elsebaie; Mohamed Abdelhafiz Mansour; Solaf M Elsayed; Shady Mahmoud; Tamer A El-Sobky
Journal:  Bone Rep       Date:  2021-07-10

5.  Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.

Authors:  Jordan E Morningstar; Annah Nieman; Christina Wang; Tyler Beck; Andrew Harvey; Russell A Norris
Journal:  J Am Heart Assoc       Date:  2021-06-22       Impact factor: 5.501
  5 in total

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