Literature DB >> 3398012

Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

L Cecatto-De-Lima1, M Pinheiro, N Freire-Maia.   

Abstract

A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.

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Year:  1988        PMID: 3398012      PMCID: PMC1050515          DOI: 10.1136/jmg.25.6.430

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


  3 in total

1.  Ectodermal dysplasias.

Authors:  N Freire-Maia
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

2.  AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations.

Authors:  M Pinheiro; N Freire-Maia; E A Chautard-Freire-Maia; L M Araujo; B Liberman
Journal:  Am J Med Genet       Date:  1983-09

3.  Ectodermal dysplasias revisited.

Authors:  N Freire-Maia
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1977
  3 in total

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