Article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain : a journal of neurology - 1 Aug 2020
Schneeberger Pauline E, Kortüm Fanny, Korenke Georg Christoph, Alawi Malik, Santer René, Woidy Mathias, Buhas Daniela, Fox Stephanie, Juusola Jane, Alfadhel Majid, Webb Bryn D, Coci Emanuele G, Abou Jamra Rami, Siekmeyer Manuela, Biskup Saskia, Heller Corina, Maier Esther M, Javaher-Haghighi Poupak, Bedeschi Maria F, Ajmone Paola F, Iascone Maria, Peeters Hilde, Ballon Katleen, Jaeken Jaak, Rodríguez Alonso Aroa, Palomares-Bralo María, Santos-Simarro Fernando, Meuwissen Marije E C, Beysen Diane, Kooy R Frank, Houlden Henry, Murphy David, Doosti Mohammad, Karimiani Ehsan G, Mojarrad Majid, Maroofian Reza, Noskova Lenka, Kmoch Stanislav, Honzik Tomas, Cope Heidi, Sanchez-Valle Amarilis, Gelb Bruce D, Kurth Ingo, Hempel Maja, Kutsche Kerstin
Abstract excerpt
In pleiotropic diseases, multiple organ systems are affected causing a variety of clinical manifestations. Here, we report a pleiotropic disorder with a unique constellation of neurological, endocrine, exocrine, and haematological findings that is caused by biallelic MADD variants. MADD, the mitogen-activated protein kinase (MAPK) activating death domain protein, regulates various cellular functions, such as...
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