Patient informs himself in diagnostic booklet

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Patient informs himself in diagnostic booklet

Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Patient informs himself in diagnostic booklet

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Patient informs himself in diagnostic booklet

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Patient informs himself in diagnostic booklet

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.