Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

• Main Authors: Jinying Wu (Author), Meifang Lei (Author), Xuetao Wang (Author), Nan Liu (Author), Xiaowei Xu (Author), Chunyu Gu (Author), Yuping Yu (Author), Wei Liu (Author)
• Format: Book
• Published: BMC, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or ear...