A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

by Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson
Published 2019-05-01

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

by Benedetta Izzi, Inge Francois, Veerle Labarque, Chantal Thys, Christine Wittevrongel, Koen Devriendt, Eric Legius, Annick Van den Bruel, Marc D'Hooghe, Diether Lambrechts, Francis de Zegher, Chris Van Geet, Kathleen Freson
Published 2012-01-01