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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Research
Online dostop: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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