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: Table3.XLSX › Sheet1
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Cappuccio G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
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