Literature DB >> 12210330

Genitopatellar syndrome: delineating the anomalies of female genitalia.

Edward J Lammer1, Liane Abrams.   

Abstract

We report the second female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. The salient features include severe mental retardation and microcephaly with absence of the corpus callosum, absent/hypoplastic patellae, genital anomalies, and hydronephrosis. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2002        PMID： 12210330     DOI： 10.1002/ajmg.10582

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 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

Review 3.  The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Authors:  Philippe M Campeau; James T Lu; Brian C Dawson; Ivo F A C Fokkema; Stephen P Robertson; Richard A Gibbs; Brendan H Lee
Journal:  Hum Mutat       Date:  2012-07-12       Impact factor: 4.878
  3 in total

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