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

• Main Authors: Xuejiao Chen (Author), Huihui Xu (Author), Weiwu Shi (Author), Feng Wang (Author), Fenfen Xu (Author), Yang Zhang (Author), Jun Gan (Author), Xiong Tian (Author), Baojun Chen (Author), Meizhen Dai (Author)
• Formato: Livro
• Publicado em: BMC, 2021-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract 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 duplic...