Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B

OBJECTIVE: We previously described a family in which predisposition to pheochromocytoma (PCC) segregates with a germline heterozygous KIF1B nucleotide variant (c.4442G>A, p.Ser1481Asn) in three generations. During the clinical follow-up, one proband’s brother, negative for the KIF1B nucleotide va...

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Detalles Bibliográficos
Autores principales: Cardot Bauters, Catherine, Leteurtre, Emmanuelle, Carnaille, Bruno, Do Cao, Christine, Espiard, Stéphanie, Penven, Malo, Destailleur, Evelyne, Szuster, Isabelle, Lovecchio, Tonio, Leclerc, Julie, Frénois, Fredéric, Esquivel, Emmanuel, Dahia, Patricia L M, Ait-Yahya, Emilie, Crépin, Michel, Pigny, Pascal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7707833/
https://www.ncbi.nlm.nih.gov/pubmed/33112832
http://dx.doi.org/10.1530/EC-20-0460

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