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
Novel DNMT3A germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome
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DOI: 10.1111/cge.12878
Abstract: Tatton‐Brown–Rahman syndrome (TBRS) was recently described in 13 isolated cases with de novo mutations in the DNMT3A gene. This autosomal dominant condition is characterized by tall stature, intellectual disability and a distinctive facial appearance. Here,… read more here.
Keywords: brown rahman; novel dnmt3a; dnmt3a germline; rahman syndrome ... See more keywords
Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2021.752756
Abstract: Objective To present a rare clinical case of a patient with Tatton-Brown-Rahman syndrome and the outcome of tall stature management with bilateral epiphysiodesis surgery at the distal femur and proximal ends of tibia and fibula.… read more here.
Keywords: tall stature; brown rahman; stature; rahman syndrome ... See more keywords