Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A

Loss-of-function mutations of BMPR1A cause juvenile polyposis syndrome (JPS), but large genomic deletions in BMPR1A are rare, reported in few families only, and data regarding the associated phenotype are limited. METHODS: We investigated clinical features and genomic data of 7 extended seemingly un...

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Detalles Bibliográficos
Autores principales: Lieberman, Sari, Beeri, Rachel, Walsh, Tom, Schechter, Menachem, Keret, Dan, Half, Elizabet, Gulsuner, Suleyman, Tomer, Ariela, Jacob, Harold, Cohen, Shlomi, Basel-Salmon, Lina, Mansur, Mahmud, Berger, Rachel, Katz, Lior H., Golomb, Eliahu, Peretz, Tamar, Levy, Zohar, Kedar, Inbal, King, Mary-Claire, Levy-Lahad, Ephrat, Goldberg, Yael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708668/
https://www.ncbi.nlm.nih.gov/pubmed/31259752
http://dx.doi.org/10.14309/ctg.0000000000000054

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