Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehea...

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Detalles Bibliográficos
Autores principales: Kiessling, Patrick, Dowling, Eric, Huang, Yajue, Ho, Mai Lan, Balakrishnan, Karthik, Weigel, Brenda J., Highsmith, W. Edward, Niu, Zhiyv, Schimmenti, Lisa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549566/
https://www.ncbi.nlm.nih.gov/pubmed/30696621
http://dx.doi.org/10.1101/mcs.a003640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549566/
https://www.ncbi.nlm.nih.gov/pubmed/30696621
http://dx.doi.org/10.1101/mcs.a003640

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