Nalaganje...
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...
Shranjeno v:
| izdano v: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2018
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5845372/ https://ncbi.nlm.nih.gov/pubmed/29523099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0556-2 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|