Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review

BACKGROUND: To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12 have been reported. The most frequent phenotypic manifestations are developmental delay, dysmorphic facial features, congenital heart defects, digital alterations, and pigmentary disorders. In the present report,...

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Detalles Bibliográficos
Autores principales: Martínez-Hernández, A., Martínez-Anaya, D., Durán-McKinster, C., Del Castillo-Ruiz, V., Navarrete-Meneses, P., Córdova, E. J., Villegas-Torres, B. E., Ruiz-Herrera, A., Juárez-Velázquez, R., Yokoyama-Rebollar, E., Cervantes-Barragán, D., Pedraza-Meléndez, A., Orozco, L., Pérez-Vera, P., Salas-Labadía, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9620619/
https://www.ncbi.nlm.nih.gov/pubmed/36316743
http://dx.doi.org/10.1186/s12920-022-01382-x

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