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Tamara Rybak on Muck Rack

Tamara Rybak

As seen in: Journal of Medical Genetics (JMG)
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Articles

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals

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By Saskia Koene, Fabiënne Gwendolin Ropers, Jannelien Wieland, Tamara Rybak
| Journal of Medical Genetics (JMG)
Abstract Background The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications.
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