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

• Hauptverfasser: Magdalena Danyel (Verfasst von), Eun Kyung Suk (Verfasst von), Vera Raile (Verfasst von), Jutta Gellermann (Verfasst von), Alexej Knaus (Verfasst von), Denise Horn (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2019-01-01T00:00:00Z.
• Schlagworte: article
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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...