Associated Papers
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
Genovesi ML et al.
Frontiers in Genetics, 2022
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_2
FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.
Wang Y et al.
Oncotarget, 2017
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