Similar Items: Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature
- MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2
- Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report
- Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum
- A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome
- Unraveling the risk factors for spontaneous intra cerebral hemorrhage among West Africans
- Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic Variant