Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation
about
Neurological manifestations of Ehlers-Danlos syndrome(s): A reviewAutism as a sequence: from heterochronic germinal cell divisions to abnormalities of cell migration and cortical dysplasiasEhlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Filamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and DiseaseLong-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.Left main coronary artery compression by a dilated main pulmonary artery and left coronary sinus of Valsalva aneurysm in a patient with heritable pulmonary arterial hypertension and FLNA mutation.Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Arterial tortuosity in patients withFilamin A- associated vascular aneurysms
P2860
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P2860
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Ehlers-Danlos syndrome and per ...... ly with a single FLNA mutation
@en
type
label
Ehlers-Danlos syndrome and per ...... ly with a single FLNA mutation
@en
prefLabel
Ehlers-Danlos syndrome and per ...... ly with a single FLNA mutation
@en
P2093
P2860
P356
P1476
Ehlers-Danlos syndrome and per ...... ly with a single FLNA mutation
@en
P2093
C Gómez-Abad
C de la Torre
E Gutiérrez-Delicado
J M Serratosa
J Morales-Corraliza
M Castro del Río
P Gómez-Garre
P2860
P304
P356
10.1136/JMG.2004.029173
P407
P577
2005-07-01T00:00:00Z