Literature DB >> 8737655

EEC syndrome and genitourinary anomalies: an update.

S M Maas1, T P de Jong, P Buss, R C Hennekam.   

Abstract

We report on a large family with the ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome. The clinical manifestations in this family show great variability. Specific genitourinary anomalies were found. The propositus with micturition problems is discussed in detail. A dysplastic bladder epithelium might be the cause of these problems. A remarkable improvement of the complaints was achieved upon treatment with synthetic sulfonated glycosaminoglycans.

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Year:  1996        PMID： 8737655     DOI： 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J

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


  9 in total

1.  Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors:  H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

2.  Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

Authors:  J R O'Quinn; R C Hennekam; L B Jorde; M Bamshad
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

3.  Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

Authors:  L L Barrow; H van Bokhoven; S Daack-Hirsch; T Andersen; S E C van Beersum; R Gorlin; J C Murray
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 4.  Lower urinary tract development and disease.

Authors:  Hila Milo Rasouly; Weining Lu
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2013-02-13

5.  p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract.

Authors:  Tan A Ince; Aida P Cviko; Bradley J Quade; Annie Yang; Frank D McKeon; George L Mutter; Christopher P Crum
Journal:  Am J Pathol       Date:  2002-10       Impact factor: 4.307

Review 6.  Update on 13 Syndromes Affecting Craniofacial and Dental Structures.

Authors:  Theodosia N Bartzela; Carine Carels; Jaap C Maltha
Journal:  Front Physiol       Date:  2017-12-14       Impact factor: 4.566

7.  TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Authors:  Isabel Friedmann; Carla Campagnolo; Nancy Chan; Ghislain Hardy; Maha Saleh
Journal:  Mol Genet Genomic Med       Date:  2020-09-02       Impact factor: 2.183

8.  Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex.

Authors:  Simon Wilkins; Ke Wei Zhang; Istiak Mahfuz; Renaud Quantin; Nancy D'Cruz; John Hutson; Michael Ee; Darius Bagli; Karen Aitken; Fion Nga-Yin Fong; Patrick Kwok-Shing Ng; Stephen Kwok-Wing Tsui; Wendy Yin-Wan Fung; Tahmina Banu; Atul Thakre; Kaid Johar; Enrique Jaureguizar; Long Li; Wei Cheng
Journal:  PLoS Genet       Date:  2012-12-20       Impact factor: 5.917

9.  Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.

Authors:  Jinglei Zheng; Haochen Liu; Yuan Zhan; Yang Liu; Sing-Wai Wong; Tao Cai; Hailan Feng; Dong Han
Journal:  Mol Genet Genomic Med       Date:  2019-05-02       Impact factor: 2.183
  9 in total

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