Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includesXIST and disrupts theEDA gene-Reference-Cited by-同舟云学术

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includesXIST and disrupts theEDA gene

Published:2007 Issue:13 Volume:143A Page:1510-1513
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ørstavik Karen Helene,Knudsen Gun Peggy S.,Nordgarden Hilde,Ormerod Eli,Strømme Petter,Lazarou Lazarous P.,Rosser Lyndon G.,Prescott Trine,Houge Gunnar

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

2. X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

3. X-chromosome inactivation and human genetic disease

4. Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation

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1. Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern;Diagnostics;2022-09-23

2. Genetic analysis of a possible case of canine X‐linked ectodermal dysplasia;Journal of Small Animal Practice;2021-06-02

3. Lésions linéaires : un signe dermatologique clé de la dysplasie ectodermique liée à l’X chez la fille;Annales de Dermatologie et de Vénéréologie;2020-09

4. Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a;BMC Medical Genetics;2018-12

5. First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth;Clinica Chimica Acta;2017-12