Literature DB >> 21412151

Genitopatellar syndrome: a further case.

Rossa Brugha1, Maria Kinali, Kingi Aminu, Nicola Bridges, Sue E Holder.   

Abstract

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Year:  2011        PMID： 21412151     DOI： 10.1097/MCD.0b013e328345a1dd

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Authors:  Philippe M Campeau; Jaeseung C Kim; James T Lu; Jeremy A Schwartzentruber; Omar A Abdul-Rahman; Silke Schlaubitz; David M Murdock; Ming-Ming Jiang; Edward J Lammer; Gregory M Enns; William J Rhead; Jon Rowland; Stephen P Robertson; Valérie Cormier-Daire; Matthew N Bainbridge; Xiang-Jiao Yang; Marie-Claude Gingras; Richard A Gibbs; David S Rosenblatt; Jacek Majewski; Brendan H Lee
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

2.  De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Authors:  Michael A Simpson; Charu Deshpande; Dimitra Dafou; Lisenka E L M Vissers; Wesley J Woollard; Susan E Holder; Gabriele Gillessen-Kaesbach; Ronny Derks; Susan M White; Ruthy Cohen-Snuijf; Sarina G Kant; Lies H Hoefsloot; Willie Reardon; Han G Brunner; Ernie M H F Bongers; Richard C Trembath
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025
  2 in total

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