Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients.
Martinez MF et al.
Cells, 2019
[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].
Mazzuoccolo LD et al.
Medicina, 2014
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