Literature DB >> 7334506

A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia.

J A Spfaer.   

Abstract

The frequency of carriers of X linked hypohidrotic ectodermal dysplasia among females with hypodontia of the permanent dentition (excluding third molars) could be as high as 1 in 500, and among females with deciduous hypodontia could be as high as 1 in 50. Since it may be possible to identify carriers form among female hypodontia cases in general by virtue of a reduced sweat pore count, the potential exists for a reasonably practical method of screening for carriers at the population level.

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Year:  1981        PMID： 7334506      PMCID： PMC1048794          DOI： 10.1136/jmg.18.6.459

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


  11 in total

1.  Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes.

Authors:  C J Witkop; L J Brearley; W C Gentry
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1975-01

2.  Dental anomalies of number, form and size: their prevalence in British schoolchildren.

Authors:  A H Brook
Journal:  J Int Assoc Dent Child       Date:  1974-12

3.  Autosomal recessive hypohidrotic ectodermal dysplasia: dental manifestations.

Authors:  R C Bartlett; L R Eversole; R S Adkins
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1972-05

4.  Equilibrium frequencies in X-linked recessive disease.

Authors:  S M Holloway; C Smith
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

5.  Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance.

Authors:  I A Crump; D M Danks
Journal:  J Pediatr       Date:  1971-03       Impact factor: 4.406

6.  Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment.

Authors:  J L Frias; D W Smith
Journal:  J Pediatr       Date:  1968-05       Impact factor: 4.406

7.  Hypohidrotic (or anhidrotic) ectodermal dysplasia--an appraisal of diagnostic methods.

Authors:  J Verbov
Journal:  Br J Dermatol       Date:  1970-09       Impact factor: 9.302

8.  Monogenic disorders.

Authors:  C O Carter
Journal:  J Med Genet       Date:  1977-10       Impact factor: 6.318

9.  X-linked anhidrotic ectodermal dysplasia with some unusual features.

Authors:  W M Settineri; F M Salzano; M J Fretas
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

10.  On the distribution of frequencies of mutation to genes determining harmful traits in man.

Authors:  A C Stevenson; C B Kerr
Journal:  Mutat Res       Date:  1967 May-Jun       Impact factor: 2.433
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  1 in total

1.  Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

Authors:  Fangqi He; Hongfeng Wang; Xiaoyu Zhang; Qingping Gao; Feng Guo; Chang Chen
Journal:  BMC Med Genet       Date:  2018-12-07       Impact factor: 2.103
  1 in total

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