Associated Papers
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S et al.
Orphanet Journal of Rare Diseases, 2024
Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome.
Huang L et al.
Journal of Ophthalmology, 2021
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
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