Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
ABSTRACT 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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1630 |