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