We report 2 cases of girls with gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738185 | PMC |
| http://dx.doi.org/10.1159/000501183 | DOI Listing |
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