Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

BACKGROUND: Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication...

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Detalles Bibliográficos
Autores principales: Busè, Martina, Cuttaia, Helenia C., Palazzo, Daniela, Mazara, Marcella V., Lauricella, Salvatrice A., Malacarne, Michela, Pierluigi, Mauro, Cavani, Simona, Piccione, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518118/
https://www.ncbi.nlm.nih.gov/pubmed/28724436
http://dx.doi.org/10.1186/s13052-017-0380-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518118/
https://www.ncbi.nlm.nih.gov/pubmed/28724436
http://dx.doi.org/10.1186/s13052-017-0380-x

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