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Gregorio Serra
Public Documents
1
2q13 microdeletion syndrome: report on a newborn with additional features expanding t...
Ettore Piro
and 4 more
February 25, 2021
In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and genomic findings are consistent with the diagnosis of 2q13 microdeletion syndrome.