Publications by authors named "Lucas Bourmance"
Article Synopsis
- Arthrogryposis multiplex congenita (AMC) is a condition that happens when babies can't move their joints much before they are born.
- Scientists studied a baby with AMC and found two problems in a gene called Dystonin (DST) that affects nerves.
- These gene problems can cause nerve issues in families, and the study helps us understand more about how AMC happens.
Background: Early-onset isolated systemic hypertension is a rare condition of unknown genetic origin. Renovascular, renal parenchymal diseases or aortic coarctation are the most common causes of secondary systemic hypertension in younger children and neonates. We investigated the genetic bases of early-onset isolated systemic hypertension.
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