Related Articles

• CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney
• Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia
• Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency
• Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report
• Whole‑exome sequencing identifies an <em>RS1</em> variant in a Chinese family with X‑linked retinoschisis