Associated Papers
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants.
Owrang D et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2024
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
Khalifa O et al.
European Journal of Pediatrics, 2011
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