Article
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
American journal of medical genetics. Part A - 1 Jul 2023
Wojcik Monica H, Srivastava Siddharth, Agrawal Pankaj B, Balci Tugce B, Callewaert Bert, Calvo Pier Luigi, Carli Diana, Caudle Michelle, Colaiacovo Samantha, Cross Laura, Demetriou Kalliope, Drazba Katy, Dutra-Clarke Marina, Edwards Matthew, Genetti Casie A, Grange Dorothy K, Hickey Scott E, Isidor Bertrand, Küry Sébastien, Lachman Herbert M, Lavillaureix Alinoe, Lyons Michael J, Marcelis Carlo, Marco Elysa J, Martinez-Agosto Julian A, Nowak Catherine, Pizzol Antonio, Planes Marc, Prijoles Eloise J, Riberi Evelise, Rush Eric T, Russell Bianca E, Sachdev Rani, Schmalz Betsy, Shears Deborah, Stevenson David A, Wilson Kate, Jansen Sandra, de Vries Bert B A, Curry Cynthia J
Abstract excerpt
Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were...
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