Similar Items: Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report
- Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8
- Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers–Danlos Syndrome
- gene variations: A novel cause for hereditary cancer predisposition?
- ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants
- Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant
- Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single‐Center Study