Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant dise...

Descripción completa

Detalles Bibliográficos
Autores principales: Cadieux-Dion, Maxime, Safina, Nicole P., Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845372/
https://www.ncbi.nlm.nih.gov/pubmed/29523099
http://dx.doi.org/10.1186/s12881-018-0556-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845372/
https://www.ncbi.nlm.nih.gov/pubmed/29523099
http://dx.doi.org/10.1186/s12881-018-0556-2

Ejemplares similares