Comprehensive Mutation Scanning of NF1 in Apparently Sporadic Cases of Pheochromocytoma | Zendy

Birke Bausch | Zendy; Ann-Cathrin Koschker | Zendy; Martin Faßnacht | Zendy; Johanna Stoevesandt | Zendy; Michael M. Hoffmann | Zendy; Charis Eng | Zendy; Bruno Allolio | Zendy; Hartmut P.H. Neumann | Zendy

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Comprehensive Mutation Scanning of NF1 in Apparently Sporadic Cases of Pheochromocytoma

Author(s) -

Birke Bausch,

Ann-Cathrin Koschker,

Martin Faßnacht,

Johanna Stoevesandt,

Michael M. Hoffmann,

Charis Eng,

Bruno Allolio,

Hartmut P.H. Neumann

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-0780

Subject(s) - sdhd , pheochromocytoma , sdhb , germline mutation , neurofibromatosis , neurofibromin 1 , germline , exon , medicine , pathology , mutation , genetics , cancer research , biology , gene

Pheochromocytoma is a rare manifestation in patients with neurofibromatosis type 1 (NF 1). The 57-exon susceptibility gene NF1 has so far not been systematically scanned for unexpected germline mutations in individuals with sporadic pheochromocytoma.

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