Cargando…
Case report: Novel phenotype in central 22q11.2 deletion syndrome
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 faci...
Autores principales: | Dideum, Patrick, Rohena, Luis, Berg, Janet, Percival, Candace |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752388/ https://www.ncbi.nlm.nih.gov/pubmed/33363922 http://dx.doi.org/10.1002/ccr3.2870 |
Ejemplares similares
-
Genotype-phenotype correlation in 22q11.2 deletion syndrome
por: Michaelovsky, Elena, et al.
Publicado: (2012) -
Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome
por: Heung, Tracy, et al.
Publicado: (2022) -
Hematological abnormalities and 22q11.2 deletion syndrome
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2011) -
Obesity in adults with 22q11.2 deletion syndrome
por: Voll, S, et al.
Publicado: (2016) -
Risk of malignancy in 22q11.2 deletion syndrome
por: Stevens, Toer, et al.
Publicado: (2017)