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
Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder.
Magalhães OA et al.
Arquivos Brasileiros De Oftalmologia, 2019
Evidence against ZNF469 being causative for keratoconus in Polish patients.
Karolak JA et al.
Acta Ophthalmologica, 2016
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