Literature DB >> 13372143

Hypotrichosis, syndactyly, and retinal degeneration in two siblings.

B ALBRECTSEN, I B SVENDSEN.   

Abstract

Entities:  

Keywords:  ALOPECIA/complications; FINGERS/abnormalities; RETINA/diseases

Mesh：

Year:  1956        PMID： 13372143

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  5 in total

1.  CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.

Authors:  L Basel-Vanagaite; M Pasmanik-Chor; R Lurie; A Yeheskel; K W Kjaer
Journal:  Mol Syndromol       Date:  2011-04-07

2.  The EEC syndrome and its ocular manifestations.

Authors:  A A McNab; M J Potts; R A Welham
Journal:  Br J Ophthalmol       Date:  1989-04       Impact factor: 4.638

3.  Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.

Authors:  S Ohdo; K Hirayama; T Terawaki
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

4.  Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.

Authors:  T Perniola; G Krajewska; F Carnevale; M Lospalluti
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

5.  Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

Authors:  K W Kjaer; L Hansen; G C Schwabe; A P Marques-de-Faria; H Eiberg; S Mundlos; N Tommerup; T Rosenberg
Journal:  J Med Genet       Date:  2005-04       Impact factor: 6.318
  5 in total

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