Associated Papers
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
Li X et al.
Molecular Vision, 2007
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
Ma X et al.
Japanese Journal of Ophthalmology, 0
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