Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants

The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. Genetic analyses have shown that the disease is caused by missense mutations of the KCTD1 protein, although the functional/...

Descripción completa

Detalles Bibliográficos
Autores principales: Smaldone, Giovanni, Balasco, Nicole, Pirone, Luciano, Caruso, Daniela, Di Gaetano, Sonia, Pedone, Emilia Maria, Vitagliano, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642198/
https://www.ncbi.nlm.nih.gov/pubmed/31324836
http://dx.doi.org/10.1038/s41598-019-46911-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642198/
https://www.ncbi.nlm.nih.gov/pubmed/31324836
http://dx.doi.org/10.1038/s41598-019-46911-4

Ejemplares similares