Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

• Main Authors: Magdalena Danyel (Author), Eun Kyung Suk (Author), Vera Raile (Author), Jutta Gellermann (Author), Alexej Knaus (Author), Denise Horn (Author)
• Format: Book
• Published: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused...