共 50 条
- [35] Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH:: a clinical and molecular genetic analysis LANCET, 2002, 359 (9309): : 841 - 847
- [38] Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum ORPHANET JOURNAL OF RARE DISEASES, 2011, 6
- [40] Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias Translational Neurodegeneration, 10