Literature DB >> 1623625

Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.

M Pinheiro1, N Freire-Maia.   

Abstract

An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155.

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Year:  1992        PMID: 1623625     DOI: 10.1111/j.1399-0004.1992.tb03401.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  [Genetic hair diseases. An update].

Authors:  J Frank; P Poblete-Gutiérrez; K Giehl
Journal:  Hautarzt       Date:  2013-11       Impact factor: 0.751

2.  Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

Authors:  M Naeem; M Jelani; K Lee; G Ali; M S Chishti; A Wali; A Gul; P John; M J Hassan; S M Leal; W Ahmad
Journal:  Br J Dermatol       Date:  2006-12       Impact factor: 9.302

3.  Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Authors:  Zhimiao Lin; Quan Chen; Lei Shi; Mingyang Lee; Kathrin A Giehl; Zhanli Tang; Huijun Wang; Jie Zhang; Jinghua Yin; Lingshen Wu; Ruo Xiao; Xuanzhu Liu; Lanlan Dai; Xuejun Zhu; Ruoyu Li; Regina C Betz; Xue Zhang; Yong Yang
Journal:  Am J Hum Genet       Date:  2012-10-11       Impact factor: 11.025

4.  A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

Authors:  M Naeem; M Wajid; K Lee; S M Leal; W Ahmad
Journal:  J Med Genet       Date:  2006-03       Impact factor: 6.318

5.  Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Authors:  Doroteya Raykova; Joakim Klar; Aysha Azhar; Tahir Naeem Khan; Naveed Altaf Malik; Muhammad Iqbal; Muhammad Tariq; Shahid Mahmood Baig; Niklas Dahl
Journal:  PLoS One       Date:  2014-04-08       Impact factor: 3.240

  5 in total

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