11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

BACKGROUND: Potocki–Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication ha...

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Detalles Bibliográficos
Autores principales: Chen, Xuejiao, Xu, Huihui, Shi, Weiwu, Wang, Feng, Xu, Fenfen, Zhang, Yang, Gan, Jun, Tian, Xiong, Chen, Baojun, Dai, Meizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8034150/
https://www.ncbi.nlm.nih.gov/pubmed/33836758
http://dx.doi.org/10.1186/s12920-021-00945-8

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