Literature DB >> 1865470

Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.

A Clarke1, J Burn.   

Abstract

X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an accurate diagnosis for isolated females who present with features of ectodermal dysplasia. The advantages of diagnosing female carriers of XHED include the optimisation of neonatal and paediatric care for affected male infants, who may be at substantial risk of death in infancy.

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Year:  1991        PMID: 1865470      PMCID: PMC1016852          DOI: 10.1136/jmg.28.5.330

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


  23 in total

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Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

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Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

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Authors:  J Zonana; M Sarfarazi; N S Thomas; A Clarke; K Marymee; P S Harper
Journal:  J Pediatr       Date:  1989-03       Impact factor: 4.406

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Authors:  C Moss; P Ince
Journal:  Br J Dermatol       Date:  1987-06       Impact factor: 9.302

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Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962

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Journal:  Can Med Assoc J       Date:  1939-01       Impact factor: 8.262

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Authors:  Young H Lim; Zoe Moscato; Keith A Choate
Journal:  Annu Rev Genet       Date:  2017-11-27       Impact factor: 16.830

2.  Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

Authors:  J Zonana; M Jones; A Clarke; J Gault; B Muller; N S Thomas
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

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Authors:  Matthew N Cramer; Daniel Gagnon; Orlando Laitano; Craig G Crandall
Journal:  Physiol Rev       Date:  2022-06-09       Impact factor: 46.500

4.  Evaluation of sweat production by pilocarpine iontophoresis: a noninvasive screening tool for hypohidrosis in ectodermal dysplasia.

Authors:  Surupa Basu; Monjori Mitra; Apurba Ghosh
Journal:  Indian J Clin Biochem       Date:  2013-05-15

5.  Thermoregulation in Ectodermal Dysplasia: A Case Series.

Authors:  Heather Massey; James House; Michael Tipton
Journal:  Int J Environ Res Public Health       Date:  2019-11-15       Impact factor: 3.390

  5 in total

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