Nalaganje...
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
BACKGROUND: The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized molecular diagnosis. Here, we describe two patients with a rare...
Shranjeno v:
| izdano v: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2021
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8123746/ https://ncbi.nlm.nih.gov/pubmed/33724725 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1630 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|