Related Articles
Novel compound variants of the <em>TMTC3</em> gene cause cobblestone lissencephaly‑like syndrome: A case report
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature