Non-invasive prenatal diagnosis of a paternally inherited MEN1 pathogenic splicing variant

CONCLUSION: We showed that functional genetic analysis can help to assess the pathogenicity of a MEN1 variant with crucial consequences for medical care and genetic counselling decisions.PMID:34897474 | DOI:10.1210/clinem/dgab894

Source: The Journal of Clinical Endocrinology and Metabolism - December 13, 2021 Category: Endocrinology Authors: Thomas Huby Edouard Le Guillou Cyril Burin des Roziers Laurence Pacot Audrey Briand-Suleau Albain Chansavang Aur élie Toussaint V éronique Duchossoy Nicolas Vaucouleur Virginie Benoit Laurence Lod é Cl émence Molac Marie-Odile North Sarah Grotto Vassi Source Type: research