2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
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.
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wiley
2021-06-01
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| Σειρά: | Clinical Case Reports |
| Θέματα: | |
| Διαθέσιμο Online: | https://doi.org/10.1002/ccr3.4289 |
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