New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)

BACKGROUND: To perform genetic screening for ARMC5 gene germline pathogenic variants in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH). SUBJECTS AND METHODS: In a group of 10 PBMAH patients, we performed complete sequencing of the coding region of the ARMC5 gene and MLPA an...

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Detalles Bibliográficos
Autores principales: Giacché, Mara, Panarotto, Alessandra, Mori, Luigi, Poliani, Pietro Luigi, Lanzi, Roberto, Lena, Marco Schiavo, Castellano, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094083/
https://www.ncbi.nlm.nih.gov/pubmed/36727580
http://dx.doi.org/10.1002/mgg3.2126

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