Literature DB >> 12471209

Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature.

L Armstrong, J T R Clarke.   

Abstract

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Year:  2002        PMID： 12471209      PMCID： PMC1757222          DOI： 10.1136/jmg.39.12.933

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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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

Review 2.  Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Authors:  Corinna Bergmann; Susanne Spranger; Poupak Javaher; Martin Ptok
Journal:  Oral Maxillofac Surg       Date:  2011-06
  2 in total

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