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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Bibliographic Details
Published in:Endocrinol Diabetes Metab Case Rep
Main Authors: Saitoh, Kohei, Yonemoto, Takako, Usui, Takeshi, Takekoshi, Kazuhiro, Suzuki, Makoto, Nakashima, Yoshiharu, Yoshimura, Koji, Kosugi, Rieko, Ogawa, Tatsuo, Inoue, Tatsuhide
Format: Artigo
Language:Inglês
Published: Bioscientifica Ltd 2017
Subjects:
New Disease or Syndrome: Presentations/Diagnosis/Management
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5404711/
https://ncbi.nlm.nih.gov/pubmed/28458909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0014
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