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Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

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The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. Click to show full abstract

The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations.

Keywords: rahman syndrome; spectrum rahman; mutational spectrum; syndrome; expanding mutational; syndrome rare

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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