Associated Papers
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Minale EMP et al.
Genes, 2024
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang Q et al.
Bmc Medical Genomics, 2023
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K et al.
American Journal of Medical Genetics. Part A, 2022
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