Article
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
American journal of medical genetics. Part A - 1 Sept 2022
Marbach Felix, Lipska-Ziętkiewicz Beata S, Knurowska Agata, Michaud Vincent, Margot Henri, Lespinasse James, Tran Mau Them Frédéric, Coubes Christine, Park Joohyun, Grosch Sarah, Roggia Cristiana, Grasshoff Ute, Kalsner Louisa, Denommé-Pichon Anne-Sophie, Afenjar Alexandra, Héron Bénédicte, Keren Boris, Caro Pilar, Schaaf Christian P
Abstract excerpt
We present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical features of this cohort include global developmental delay and reduced sensitivity to pain, as well as behavioral anomalies. Only one of the seven patients reported here was formally diagnosed...
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