A large family with CYLD cutaneous syndrome: medical genetics at the community level

Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family w...

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Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: Arruda, Anderson Pontes, Cardoso-dos-Santos, Augusto César, Mariath, Luiza Monteavaro, Feira, Mariléa Furtado, Kowalski, Thayne Woycinck, Bezerra, Kalina Ribeiro Fontenele, da Silva, Leonardo Augusto Coelho Torres, Ribeiro, Erlane Marques, Schuler-Faccini, Lavinia
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2019
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7295879/
https://ncbi.nlm.nih.gov/pubmed/31792733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-019-00447-2
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