Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Orphanet Journal Of Rare Diseases
Grelet, Maude M; Blanck, Véronique V; Sigaudy, Sabine S; Philip, Nicole N; Giuliano, Fabienne F; Khachnaoui, Khaoula K; Morel, Godelieve G; Grotto, Sarah S; Sophie, Julia J; Poirsier, Céline C; Lespinasse, James J; Alric, Laurent L; Calvas, Patrick P; Chalhoub, Gihane G; Layet, Valérie V; Molin, Arnaud A; Colson, Cindy C; Marsili, Luisa L; Edery, Patrick P; Lévy, Nicolas N; De Sandre-Giovannoli, Annachiara A
Publication Date: 2019-12-11
Variant appearance in text: FBN1: 5347A>T; Ile1783Phe