Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

Thomas HubyEdouard Le GuillouCyril Burin des RoziersLaurence PacotAudrey Briand-SuleauAlbain ChansavangAurélie ToussaintVéronique DuchossoyNicolas VaucouleurVirginie BenoitLaurence LodéClémence MolacMarie-Odile NorthSarah GrottoVassilis TstsarisAnne JouinotBéatrix Cochand-PriolletAnne-Cécile PaepegaeyJuliette NectouxLionel GroussinÉric Pasmant

Published in: The Journal of clinical endocrinology and metabolism (2022)

We showed that functional genetic analysis can help to assess the pathogenicity of a MEN1 variant with crucial consequences for medical care and genetic counseling decisions.

Keyphrases

middle aged
genome wide
smoking cessation
copy number
hiv testing
men who have sex with men