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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

UrologyMendelian DisorderGenetic DisorderMedicineDiagnosisPathologyNicolaides–baraitser SyndromesGenomicsTentative DiagnosisMolecular DiagnosticsClinical Genetics