Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.
Carmant LS et al.
Prenatal Diagnosis, 2025
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Patel CK et al.
Ophthalmic Genetics, 2022
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S et al.
Jama Ophthalmology, 2016
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
Suzuki O et al.
Molecular Vision, 2009
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