Detection of a de novo mosaic MECP2 mutation in a patient with Rett syndrome phenotype

被引：0

作者：

Alexandrou, Angelos ^{[1
]}

Kousoulidou, Ludmila ^{[1
]}

Papaevripidou, Ioannis ^{[1
]}

Alexandrou, Ioanna ^{[1
]}

Theodosiou, Athina ^{[1
]}

Evangelidou, Paola ^{[1
]}

Christophidou-Anastasiadou, Violetta ^{[2
,3
]}

Sismani, Carolina ^{[1
]}

机构：

[1] Cyprus Inst Neurol & Genet Cytogenet & Genom, Nicosia, Cyprus

[2] Cyprus Inst Neurol & Genet, Nicosia, Cyprus

[3] Archbishop Makarios III Hosp, Clin Genet, Nicosia, Cyprus

来源：

MOLECULAR CYTOGENETICS | 2017年 / 10卷

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

1.P47

引用

页数：1

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[1] Detection of a de novo mosaic MECP2 mutation in a patient with Rett syndrome phenotype
Alexandrou, A.
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Theodosiou, A.
Evangelidou, P.
Christophidou-Anastasiadou, V.
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[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 355 - 356
[2] De novo mosaic MECP2 mutation in a female with Rett syndrome
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[3] Novel de novo Nonsense Mutation of MECP2 in a Patient with Rett Syndrome
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[4] Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation
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[7] Another patient with MECP2 mutation without classic Rett syndrome phenotype
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[10] A Novel MECP2 Gene Mutation in a Tunisian Patient with Rett Syndrome
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