Article

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

2021-06-01

Abstract excerpt

Abstract We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.

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Literature Corpus work: 6264bd40-a54b-53af-ada8-0f1539d8cbcc
DOI: 10.1002/ccr3.4289

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