In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
about
Upregulation of neurovascular communication through filamin abrogation promotes ectopic periventricular neurogenesis.Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and DiseaseFamilial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading.Novel no-stop FLNA mutation causes multi-organ involvement in malesFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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name
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@en
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@nl
type
label
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@en
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@nl
prefLabel
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@en
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@nl
P2093
P2860
P50
P356
P1476
In-frame deletion in FLNA caus ...... h skeletal dysplasia in males.
@en
P2093
Daniela Pucatti
Isabel Llano Rivas
Joaquin Fernandez Toral
Renzo Guerrini
P2860
P304
P356
10.1002/AJMG.A.33880
P407
P577
2011-04-11T00:00:00Z