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Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma

SUMMARY: Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours with a heterogeneous genetic background. Up to 40% of apparently sporadic PCC/PGL cases carry 1 of the 12 gene germline mutations conferring genetic susceptibility to PCC/PGL. Although the precise mechanisms are unclear, TM...

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Detalles Bibliográficos
Autores principales:	Saitoh, Kohei, Yonemoto, Takako, Usui, Takeshi, Takekoshi, Kazuhiro, Suzuki, Makoto, Nakashima, Yoshiharu, Yoshimura, Koji, Kosugi, Rieko, Ogawa, Tatsuo, Inoue, Tatsuhide
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2017
Materias:	New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404711/ https://www.ncbi.nlm.nih.gov/pubmed/28458909 http://dx.doi.org/10.1530/EDM-17-0014

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