Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Cathrine Jespersgaard, Ida N Damgaard, Nanna Cornelius, Iben Bache, Niels Knabe, Maria J Miranda, Zeynep Tümer

6 Citationer (Scopus)
110 Downloads (Pure)

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Keyphrases

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry