Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
about
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityCDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.MECP2 duplication phenotype in symptomatic females: report of three further cases.De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?Brief report: regression timing and associated features in MECP2 duplication syndrome.Infectious and immunologic phenotype of MECP2 duplication syndrome.MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
P2860
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P2860
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
@zh-hant
2012年論文
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2012年論文
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2012年論文
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2012年论文
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2012年论文
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name
Xq28 duplications including ME ...... e to severe mental retardation
@ast
Xq28 duplications including ME ...... e to severe mental retardation
@en
type
label
Xq28 duplications including ME ...... e to severe mental retardation
@ast
Xq28 duplications including ME ...... e to severe mental retardation
@en
prefLabel
Xq28 duplications including ME ...... e to severe mental retardation
@ast
Xq28 duplications including ME ...... e to severe mental retardation
@en
P2093
P2860
P50
P1476
Xq28 duplications including ME ...... e to severe mental retardation
@en
P2093
A C J Gijsbers
A J Broekma
C A L Ruivenkamp
C Castagnini
E A J Peeters
E K Bijlsma
P2860
P304
P356
10.1016/J.EJMG.2012.02.009
P50
P577
2012-03-29T00:00:00Z