A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex

Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57‐kb deletion involving...

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Detalles Bibliográficos
Autores principales: Ito, Shin, Hashimoto, Aya, Yamaguchi, Kazunori, Kawamura, Sadafumi, Myoen, Shingo, Ogawa, Maki, Sato, Ikuro, Minato, Takamichi, Miyabe, Shingo, Nakazato, Akira, Fujii, Keitaro, Mochizuki, Mai, Fujimori, Haruna, Tamai, Keiichi, Niihori, Tetsuya, Aoki, Yoko, Sugawara, Akira, Sasano, Hironobu, Shima, Hiroshi, Yasuda, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922967/
https://www.ncbi.nlm.nih.gov/pubmed/35128829
http://dx.doi.org/10.1002/mgg3.1884

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