Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.


Renpenning syndrome is a well-described X-linked condition associated with multiple congenital anomalies and intellectual disability [OMIM 309500]. Typical signs include microcephaly, dysmorphic features, short stature, small testes, and lean body build. Renpenning syndrome is caused by mutations in the polyglutamine binding protein 1 (PQBP1) gene. Missense… (More)
DOI: 10.1002/ajmg.a.33756