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The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

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Title: The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Authors: Schönewolf‐Greulich, B.1,2, Tejada, M.‐I.3, Stephens, K.4, Hadzsiev, K.5, Gauthier, J.6, Brøndum‐Nielsen, K.7, Pfundt, R.8, Ravn, K.7, Maortua, H.3, Gener, B.3, Martínez‐Bouzas, C.3, Piton, A.9,10, Rouleau, G.11, Clayton‐Smith, J.4, Kleefstra, T.8, Bisgaard, A.‐M.1, Tümer, Z.2
Source: Clinical Genetics. Jun2016, Vol. 89 Issue 6, p733-738. 7p.
Database: Academic Search Ultimate
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ISSN:00099163
DOI:10.1111/cge.12769