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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...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2021
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| Assuntos: | |
| Acesso em linha: | 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 |
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