Article
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
American journal of medical genetics. Part A - 1 May 2022
Cappuccio Gerarda, Brunetti-Pierri Nicola, Clift Paul, Learn Christopher, Dykes John C, Mercer Catherine L, Callewaert Bert, Meerschaut Ilse, Spinelli Alessandro Mauro, Bruno Irene, Gillespie Matthew J, Dorfman Aaron T, Grimberg Adda, Lindsay Mark E, Lin Angela E
Abstract excerpt
Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular anomalies, including congenital heart defects. In addition to two patients in the literature with ToF, we describe five additional individuals with...
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