Associated Papers
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
37979963 (PubMed )
Supplement: jmg-2023-109510supp001.pdf
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Amato ME et al.
Clinical Case Reports, 2023
Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.
Ceylan A et al.
Frontiers in Pediatrics, 2023
A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.
Whittock NV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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