Literature DB >> 11298380

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

F C Fraser1, V M Der Kaloustian.   

Abstract

This paper presents a biographical sketch of Dr. H. R. Clouston, whose eponym is attached to a type of hidrotic ectodermal dystrophy, and a brief account of the mapping of the gene and its identification as the connexin gene, GJB6. Copyright 2001 Wiley-Liss, Inc.

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Year:  2001        PMID: 11298380     DOI: 10.1002/1096-8628(20010422)100:2<164::aid-ajmg1244>3.0.co;2-w

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


  3 in total

1.  Hair abnormalities in genetic disorders of junctions.

Authors:  Paul D Yesudian
Journal:  Int J Trichology       Date:  2009-01

Review 2.  Genodermatoses.

Authors:  N Aravindha Babu; E Rajesh; Jayasri Krupaa; G Gnananandar
Journal:  J Pharm Bioallied Sci       Date:  2015-04

3.  Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain.

Authors:  Nicole M Novielli-Kuntz; Eric R Press; Kevin Barr; Marco A M Prado; Dale W Laird
Journal:  Dis Model Mech       Date:  2021-01-26       Impact factor: 5.758

  3 in total

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