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De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

BACKGROUND: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, g...

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Detalles Bibliográficos
Autores principales: Al Dhaibani, Muna A., Allingham-Hawkins, Diane, El-Hattab, Ayman W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654040/
https://www.ncbi.nlm.nih.gov/pubmed/29061174
http://dx.doi.org/10.1186/s12881-017-0482-8