8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3

BACKGROUND: A novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, ASPH, RAB2B, CLVS1 and CDH7. The phenotype is mainly characterized by neurodev...

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Detalles Bibliográficos
Autores principales: Baroncini, Anna, Bertuzzo, Sara, Quarantini, Rita, Ricciardelli, Paolo, Giorda, Roberto, Bonaglia, Maria Clara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176195/
https://www.ncbi.nlm.nih.gov/pubmed/24206642
http://dx.doi.org/10.1186/1755-8166-6-49

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176195/
https://www.ncbi.nlm.nih.gov/pubmed/24206642
http://dx.doi.org/10.1186/1755-8166-6-49

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