Hypohidrotic ectodermal dysplasia
- 1 January 1989
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 81 (2), 120-122
- https://doi.org/10.1007/bf00293886
Abstract
A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11–21 region carried out on 30 members of the family. Current screening possiblitities for the carriers and prenatal diagnosis are discussed.This publication has 21 references indexed in Scilit:
- Hypohidrotic ectodermal dysplasia.Journal of Medical Genetics, 1987
- Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletionHuman Genetics, 1987
- Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12Human Genetics, 1986
- Manifestation of the lines of Blaschko in women heterozygous for X‐linked hypohidrotic ectodermal dysplasiaClinical Genetics, 1985
- Prenatal diagnosis of anhidrotic ectodermal dysplasiaPrenatal Diagnosis, 1984
- Christ-Siemens-Touraine syndrome—a clinical and genetic analysis of a large Brazilian kindred: I. Affected femalesAmerican Journal of Medical Genetics, 1979
- Christ-Siemens-Touraine syndrome—a clinical and genetic analysis of a large Brazilian kindred: II. Affected malesAmerican Journal of Medical Genetics, 1979
- Report of the Committee on the Genetic Constitution of the X ChromosomeCytogenetic and Genome Research, 1974
- A Stain for Sweat PoresNature, 1967
- Gene effect in carriers of anhidrotic ectodermal dysplasia.Journal of Medical Genetics, 1966