Associated Papers
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.
Lai G et al.
Frontiers in Pediatrics, 2024
39439447 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Kessel I et al.
American Journal of Medical Genetics. Part A, 2021
Select a paper to view details