Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review

• Main Authors: Xue He (Author), Huijun Shen (Author), Haidong Fu (Author), Chunyue Feng (Author), Zhixia Liu (Author), Yanyan Jin (Author), Jianhua Mao (Author)
• Format: Book
• Published: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 13q33-q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the...