Related Articles

• Molecular diagnosis of McArdle disease using whole-exome sequencing
• Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa
• Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
• Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS
• Variants of CAPN3 cause limb‑girdle muscular dystrophy type 2A in two Chinese families