Psychomotor retardation with a 1q42.11–q42.12 deletion

A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation...

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Detalles Bibliográficos
Autores principales: He, Jialing, Xie, Yingjun, Kong, Shu, Qiu, Wenjun, Wang, Xiaoman, Wang, Ding, Sun, Xiaofang, Sun, Deming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340030/
https://www.ncbi.nlm.nih.gov/pubmed/28286461
http://dx.doi.org/10.1186/s41065-016-0022-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340030/
https://www.ncbi.nlm.nih.gov/pubmed/28286461
http://dx.doi.org/10.1186/s41065-016-0022-0

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