Associated Papers
Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.
Li X et al.
Frontiers in Genetics, 2024
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
Chen Y et al.
Frontiers in Neuroscience, 2023
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Fusco C et al.
Human Mutation, 2019
CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics.
Hartmann K et al.
Neurosurgical Review, 2019
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Nardella G et al.
Human Mutation, 2018
Select a paper to view details