Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1825
Abstract: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. read more here.
Keywords: rahman syndrome; spectrum rahman; mutational spectrum; syndrome ... See more keywords
Expanding the mutational spectrum of FHONDA syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2175873
Abstract: AIM The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations in the… read more here.
Keywords: foveal hypoplasia; mutational spectrum; fhonda; expanding mutational ... See more keywords