[HTML][HTML] A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families
M Aldosary, M Alsagob, H AlQudairy… - Cells, 2022 - mdpi.com
The genetic architecture of mitochondrial disease continues to expand and currently
exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known …
exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known …
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review
A Sanri, MB Mutlu, O Sezer - European Journal of Medical Genetics, 2023 - Elsevier
Abstract Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified severe
neurodevelopmental disorder characterized by severe global developmental delay …
neurodevelopmental disorder characterized by severe global developmental delay …