Article

2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype

2021-02-25

Abstract excerpt

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.

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Literature Corpus work: 6de40533-fdb2-55ba-a4bb-936b73c79eb1
DOI: 10.22541/au.161426148.87135998/v1

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