Articles with "congenital variant" as a keyword



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Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.

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Published in 2019 at "Clinical Dysmorphology"

DOI: 10.1097/mcd.0000000000000302

Abstract: Introduction Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was first described by Austrian physician Andreas Rett in 1966 (Rett, 1966). After a brief period of normal development, patients… read more here.

Keywords: congenital variant; mild presentation; presentation congenital; rett ... See more keywords