A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction

Yerel katalogda bu makaleye atıf yapan 4 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).

1. 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentAtıf 4 · OpenAlex
2. 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentAtıf 4 · OpenAlex
3. 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentAtıf 4 · OpenAlex
4. 2021 OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical developmentAtıf 4 · OpenAlex