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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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Busè, Martina, Cuttaia, Helenia C., Palazzo, Daniela, Mazara, Marcella V., Lauricella, Salvatrice A., Malacarne, Michela, Pierluigi, Mauro, Cavani, Simona, Piccione, Maria
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5518118/
https://ncbi.nlm.nih.gov/pubmed/28724436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-017-0380-x
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