Literature DB >> 27888223

Adams-Oliver syndrome associated with gastrointestinal malformations.

Lisa van Geyzel1, Caroline Gribbon1, Sarah Bradley1, Donovan Duffy1.   

Abstract

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Mesh：

Year:  2016        PMID： 27888223      PMCID： PMC5174833          DOI： 10.1136/bcr-2016-217959

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  2 in total

1.  DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Authors:  Maja Sukalo; Felix Tilsen; Hülya Kayserili; Dietmar Müller; Beyhan Tüysüz; Deborah M Ruddy; Emma Wakeling; Karen Helene Ørstavik; Katie M Snape; Richard Trembath; Maryse De Smedt; Nathalie van der Aa; Martin Skalej; Stefan Mundlos; Wim Wuyts; Laura Southgate; Martin Zenker
Journal:  Hum Mutat       Date:  2015-04-21       Impact factor: 4.878

2.  Mutations in NOTCH1 cause Adams-Oliver syndrome.

Authors:  Anna-Barbara Stittrich; Anna Lehman; Dale L Bodian; Justin Ashworth; Zheyuan Zong; Hong Li; Patricia Lam; Alina Khromykh; Ramaswamy K Iyer; Joseph G Vockley; Rajiv Baveja; Ermelinda Santos Silva; Joanne Dixon; Eyby L Leon; Benjamin D Solomon; Gustavo Glusman; John E Niederhuber; Jared C Roach; Millan S Patel
Journal:  Am J Hum Genet       Date:  2014-08-14       Impact factor: 11.025
  2 in total

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