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2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
- Source :
- Clinical Case Reports, Vol 9, Iss 6, Pp n/a-n/a (2021)
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 9
- Issue :
- 6
- Database :
- Directory of Open Access Journals
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.6d9ed4e0cb6b4ab9a3953d3515549dae
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/ccr3.4289