A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Item
http://www.wikidata.org/entity/Q43168893
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.MECP2 Duplication Syndrome47 patients with FLNA associated periventricular nodular heterotopiaFamilial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.Cardiac malformations and midline skeletal defects in mice lacking filamin A.The FG syndrome from a pathological perspective.The MECP2 duplication syndrome.Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.Familial cardiac valvulopathy due to filamin A mutation.Novel no-stop FLNA mutation causes multi-organ involvement in malesOtopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndromeFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Item
http://www.wikidata.org/entity/Q43168893
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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name
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@en
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@nl
type
label
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@en
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@nl
prefLabel
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@en
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
A filamin A splice mutation re ...... erebro-fronto-facial syndrome.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932