A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydrone...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2020-01-01
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Series: | Case Reports in Genetics |
Online Access: | http://dx.doi.org/10.1155/2020/1731720 |