Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole‐Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Works matching IS 20906544 AND DT 2025 AND VI 2025
Results: 6
1
2
A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
3
Dual Diagnosis of Fragile X Syndrome and DEPDC5‐Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
4
Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
5
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
6
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
- Published in:
- 2025
- By:
- Publication type:
- Case Study