EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

BACKGROUND: Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when the patient is affected by only one impaired ectodermal structure, such as in...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: Martínez-Romero, María Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Barreda-Sánchez, María, Rodriguez-Peña, Lidya, Martínez-Menchon, María Teresa, Frías-Iniesta, José, Sánchez-Pedreño, Paloma, Carbonell-Meseguer, Pablo, Glover-López, Guillermo, Guillén-Navarro, Encarna
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6892193/
https://ncbi.nlm.nih.gov/pubmed/31796081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1251-x
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki