Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness
Background: To explore the genetic defects of a Chinese family with complete Schubert-Bornschein type congenital stationary night blindness (CSNB). Methods: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2024-03-01
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| Series: | Heliyon |
| Assuntos: | |
| Acceso en liña: | http://www.sciencedirect.com/science/article/pii/S2405844024030706 |
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