Related Articles

• Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing
• Identification of novel cadherin 23 variants in a Chinese family with hearing loss
• Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa
• Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
• Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia