<i>MECP2</i> Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

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作者： Victoria,San Antonio-Arce ^[1] ; María,Fenollar-Cortés ^[2] ; Raluca,Oancea Ionescu ^[2] ; Teresa,DeSantos-Moreno ^[1] ; Jesús,Gallego-Merlo ^[3] ; Francisco José,Illana Cámara ^[2] ; María Carmen,Cotarelo Pérez ^[2]

作者单位： Department of Neuropediatrics, Hospital Clínico Universitario San Carlos, Madrid, Spain. ^[1] Department of Genetics, Hospital Clínico Universitario San Carlos, Madrid, Spain. ^[2] Department of Genetics, IIS-Fundación Jiménez Díaz, UAM, Madrid, Spain. ^[3]

关键词 MECP2 duplication syndrome Xq28 microduplication including MECP2 female phenotype

DOI 10.1177/2329048X16630673

PMID 28503606

发布时间 2020-09-30

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<i>MECP2</i> Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

Child neurology open

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<i>MECP2</i> Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

Child neurology open

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