Literature DB >> 12210329

Genitopatellar syndrome: a recognizable phenotype.

William Reardon1.   

Abstract

Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessive inheritance. Copyright 2002 Wiley-Liss, Inc.

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Mesh：

Year:  2002        PMID： 12210329     DOI： 10.1002/ajmg.10590

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


  8 in total

1.  Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Authors:  N C Voermans; M Kempers; M Lammens; N van Alfen; M C Janssen; C Bönnemann; B G van Engelen; B C Hamel
Journal:  Am J Med Genet A       Date:  2012-03-09       Impact factor: 2.802

Review 2.  Genetic syndromes caused by mutations in epigenetic genes.

Authors:  María Berdasco; Manel Esteller
Journal:  Hum Genet       Date:  2013-01-31       Impact factor: 4.132

3.  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

4.  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

Review 5.  Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

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

6.  Widespread diversity in the transcriptomes of functionally divergent limb tendons.

Authors:  Nathaniel P Disser; Gregory C Ghahramani; Jacob B Swanson; Susumu Wada; Max L Chao; Scott A Rodeo; David J Oliver; Christopher L Mendias
Journal:  J Physiol       Date:  2020-03-30       Impact factor: 5.182

Review 7.  Genetics of the patella.

Authors:  Mark E Samuels; Philippe M Campeau
Journal:  Eur J Hum Genet       Date:  2019-01-21       Impact factor: 4.246

Review 8.  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
  8 in total

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