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22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter

DOI: 10.4081/cardiogenetics.2011.e11

Keywords: 22q11.2 deletion (DiGeorge) syndrome , clinical genetics , paediatric cardiology , AIdel22.

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Abstract:

Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and families. We would like to hear your story and learn from you. But before that, we asked some scholars in the field to help us understand what 22q11.2 deletion syndrome is.

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