Literature DB >> 2167611

Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome.

E S Rodini1, A Richieri-Costa.   

Abstract

We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheritance are discussed.

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Year:  1990        PMID: 2167611     DOI: 10.1002/ajmg.1320360420

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


  4 in total

1.  Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Authors:  D Soekarman; J P Fryns
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

2.  Syndactyly, ectodermal dysplasia, and cleft lip/palate.

Authors:  J Zlotogora
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

3.  Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

Authors:  K Suzuki; T Bustos; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

4.  Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1.

Authors:  Kendall J Lough; Danielle C Spitzer; Abby J Bergman; Jessica J Wu; Kevin M Byrd; Scott E Williams
Journal:  Development       Date:  2020-07-13       Impact factor: 6.862

  4 in total

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