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
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).
Chen W et al.
Frontiers in Genetics, 2023
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G et al.
Journal of Medical Genetics, 2013
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