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As principal objective, the study aims to:
As second objective, the study aims to:
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| Measure | Description | Time Frame |
|---|---|---|
| Morphological analysis | Morphological analysis : characterisation of cellular lesions by immunolabelling with endothelial markers such as CD34 and CD31, pericytic markers (smooth muscle actin and proteoglycan NG2) and astrocytic markers (GFAP) | throughout the study: 36 months |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of novel disease | Identification of novel disease causing genes in addition to FLVCR2 by whole exome sequencing. Fetus with clinical VPCA and no FLVCR2 mutation found by Sanger sequencing, will be studied by whole exome sequencing in order to find mutation in other genes that could explain the phenotype. | throughout the study: 36 months |
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Inclusion Criteria:
Exclusion Criteria:
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Intrauterine fetal death and those from termination of pregnancy for fetal abnormality.
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| Name | Affiliation | Role |
|---|---|---|
| Tania Attié-Bitach, MD, PhD | Hôpital Necker Enfants Malades, APHP | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Necker Enfants Malades, APHP | Paris | 75006 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20690116 | Result | Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329. |
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| ID | Term |
|---|---|
| C537271 | Fowler Christmas Chapple syndrome |
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Whole blood, cells cultivated, extracted DNA and fetal tissue.