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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
BACKGROUND: Childhood-onset pulmonary arterial hypertension (PAH) is rare and differs from adult-onset disease in clinical presentation, with often unexplained mental retardation and dysmorphic features (MR/DF). Mutations in the major PAH gene, BMPR2, were reported to cause PAH in only 10–16% of chi...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3717587/ https://ncbi.nlm.nih.gov/pubmed/23592887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101152 |
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