Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health
Reference18 articles.
1. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.;Allou;Eur J Hum Genet,2012
2. FOXG1 is responsible for the congenital variant of Rett syndrome.;Ariani;Am J Hum Genet,2008
3. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.;Bisgaard;Am J Med Genet A,2006
4. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.;Ellaway;Eur J Hum Genet,2013
5. The genetics of early telencephalon patterning: some assembly required.;Hébert;Nat Rev Neurosci,2008
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