Ectodysplasin A1 Deficiency Leads to Osteopetrosis-like Changes in Bones of the Skull Associated with Diminished Osteoclastic Activity

Pathogenic variants of the gene Eda cause X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by structural abnormalities or lack of ectodermal appendages. Signs of dysplasia are not restricted to derivatives of the ectodermal layer, but mesodermal abnormalities, such as crani...

Descripción completa

Detalles Bibliográficos
Autores principales: Schweikl, Christine, Maier-Wohlfart, Sigrun, Schneider, Holm, Park, Jung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603288/
https://www.ncbi.nlm.nih.gov/pubmed/36293046
http://dx.doi.org/10.3390/ijms232012189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603288/
https://www.ncbi.nlm.nih.gov/pubmed/36293046
http://dx.doi.org/10.3390/ijms232012189

Ejemplares similares