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

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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Bibliographic Details
Main Authors: Catherine Cardot Bauters, Emmanuelle Leteurtre, Bruno Carnaille, Christine Do Cao, Stéphanie Espiard, Malo Penven, Evelyne Destailleur, Isabelle Szuster, Tonio Lovecchio, Julie Leclerc, Fredéric Frénois, Emmanuel Esquivel, Patricia L M Dahia, Emilie Ait-Yahya, Michel Crépin, Pascal Pigny
Format: Article
Language:English
Published: Bioscientifica 2020-10-01
Series:Endocrine Connections
Subjects:
endocrine tumor
genetic predisposition
pheochromocytoma
neural crest
Online Access:https://ec.bioscientifica.com/view/journals/ec/9/10/EC-20-0460.xml

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https://ec.bioscientifica.com/view/journals/ec/9/10/EC-20-0460.xml

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