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MECP2 Duplication Syndrome.
Mol Syndromol. 2012 Apr;2(3-5):128-136. doi: 10.1159/000329580. Epub 2011 Jul 5.
Mol Syndromol. 2012.
PMID: 22679399
Free PMC article.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Peters SU, et al.
Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15.
Clin Genet. 2019.
PMID: 30788845
Free PMC article.
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Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X.
Li X, et al.
BMC Med Genet. 2017 Nov 15;18(1):131. doi: 10.1186/s12881-017-0486-4.
BMC Med Genet. 2017.
PMID: 29141583
Free PMC article.
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Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.
Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR.
Moirangthem A, et al.
Clin Dysmorphol. 2017 Apr;26(2):73-77. doi: 10.1097/MCD.0000000000000171.
Clin Dysmorphol. 2017.
PMID: 28257338
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.
El Chehadeh S, et al.
Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.
Clin Genet. 2017.
PMID: 27761913
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Expanding the clinical picture of the MECP2 Duplication syndrome.
Lim Z, Downs J, Wong K, Ellaway C, Leonard H.
Lim Z, et al.
Clin Genet. 2017 Apr;91(4):557-563. doi: 10.1111/cge.12814. Epub 2016 Jul 21.
Clin Genet. 2017.
PMID: 27247049
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