Associated Papers
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.
Zacchia M et al.
Kidney International Reports, 2025
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.
Marchese E et al.
Iscience, 2022
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N et al.
Genome Medicine, 2018
30029678 (PubMed )
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