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
Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation.
Kakajiwala AK et al.
Clinical Nephrology. Case Studies, 2015
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
Dai S et al.
Nephron. Clinical Practice, 2009
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