Associated Papers
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Erkut E et al.
American Journal of Human Genetics, 2025
41033306 (PubMed )
Supplement: mmc1.pdf
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
van Dijk FS et al.
European Journal of Medical Genetics, 2017
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