Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder

BACKGROUND: 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum a...

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Detalles Bibliográficos
Autores principales: Meza-Espinoza, Juan Pablo, Contreras-Gutiérrez, José Alfredo, Arámbula-Meraz, Eliakym, González-García, Juan Ramón, Domínguez-Quezada, Ma. Guadalupe, García-Magallanes, Noemí, Madueña-Molina, Jesús, Benítez-Pascual, Julio, Partida-Pérez, Miriam, Picos-Cárdenas, Verónica Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8418750/
https://www.ncbi.nlm.nih.gov/pubmed/34481514
http://dx.doi.org/10.1186/s13039-021-00564-z

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