Kearns-Sayre syndrome is genetically and phenotypically heterogeneous

Josef Finsterer (1) , Sinda Zarrouk-Mahjoub (2)

1 Krankenanstalt Rudolfstiftung
2 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory

Letter to the Editor Comment on : Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy? [Pediatr Med Chir. 2017]

Mots clés: Kearns-Sayre syndrome; mtDNA; Leucoencephalopathy; Phenotype; Genotype

Domaines: Sciences du Vivant [q-bio]

Josef Finsterer, Sinda Zarrouk-Mahjoub. Kearns-Sayre syndrome is genetically and phenotypically heterogeneous. Pediatria Medica e Chirurgica, 2018, 40 (1), ⟨10.4081/pmc.2018.193⟩. ⟨pasteur-02009260⟩