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Case report: Novel phenotype in central 22q11.2 deletion syndrome
oleh: Patrick Dideum, Luis Rohena, Janet Berg, Candace Percival
Format: | Article |
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Diterbitkan: | Wiley 2020-12-01 |
Deskripsi
Abstract Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.