Literature DB >> 1390145

Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome.

K Bork1, J Pfeifle.   

Abstract

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Year:  1992        PMID： 1390145     DOI： 10.1111/j.1365-2133.1992.tb08049.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

1.  Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Authors:  Miwako Nagasaka; Mariko Taniguchi-Ikeda; Hidehito Inagaki; Yuya Ouchi; Daisuke Kurokawa; Keiji Yamana; Risa Harada; Kandai Nozu; Yoshitada Sakai; Sushil K Mishra; Yoshiki Yamaguchi; Ichiro Morioka; Tatsushi Toda; Hiroki Kurahashi; Kazumoto Iijima
Journal:  J Hum Genet       Date:  2017-04-27       Impact factor: 3.172

2.  RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Authors:  Susan J Hassed; Graham B Wiley; Shaofeng Wang; Ji-Yun Lee; Shibo Li; Weihong Xu; Zhizhuang J Zhao; John J Mulvihill; James Robertson; James Warner; Patrick M Gaffney
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025
  2 in total

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