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Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity
Restrictive dermopathy (RD) results in stillbirth or early neonatal death. RD is characterized by prematurity, intrauterine growth retardation, fixed facial expression, micrognathia, mouth in the “o” position, rigid and tense skin with erosions and denudations and multiple joint contractures. Nearly...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2010
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3117019/ https://ncbi.nlm.nih.gov/pubmed/21108632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01580.x |
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