Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
about
Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay.Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).
P2860
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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2009年學術文章
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name
Functional disomy of proximal ...... opia and cognitive impairment.
@en
Functional disomy of proximal ...... opia and cognitive impairment.
@nl
type
label
Functional disomy of proximal ...... opia and cognitive impairment.
@en
Functional disomy of proximal ...... opia and cognitive impairment.
@nl
prefLabel
Functional disomy of proximal ...... opia and cognitive impairment.
@en
Functional disomy of proximal ...... opia and cognitive impairment.
@nl
P2860
P356
P1476
Functional disomy of proximal ...... yopia and cognitive impairment
@en
P2093
Damien Bruno
P2860
P304
P356
10.1002/AJMG.A.32954
P407
P577
2009-08-01T00:00:00Z