|
|||||
|
|
Hypohidrotic ectodermal dysplasia |
|
| Authors: | Simone Gilgenkrantz Claudine Blanchet-Bardon V Nazzaro Lorena Formiga Patricia Mujica Y Alembik |
| Institution: | (1) Centre de Transfusion Sanguine de Nancy-Brabois, Laboratoire de Génétique, Avenue de Bourgogne, F-54500 Vandoeuvre les Nancy, France;(2) Clinique des maladies cutanées, Hôpital Saint Louis, Paris, France;(3) Institut de Chimie Biologique, Faculté de Médecine, Strasbourg, France |
| Abstract: | Summary 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. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |