Associated Papers
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik AA et al.
Journal of Medical Genetics, 2021
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
Roy NBA et al.
British Journal of Haematology, 2019
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