Detection of regions of homozygosity in an unusual case of frontonasal dysplasia
Abstract We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father–daughter). A cytogenetic study revealed a normal karyotype. The genetic mapping array study identified 0.73 Gb of alterations,...
Guardat en:
| Autors principals: | , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2024-10-01
|
| Col·lecció: | Molecular Cytogenetics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13039-024-00693-1 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|