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Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
BACKGROUND: Dyssegmental dysplasia Silverman‐Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. METHODS: We report on a...
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| Veröffentlicht in: | Mol Genet Genomic Med |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
John Wiley and Sons Inc.
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6014473/ https://ncbi.nlm.nih.gov/pubmed/29526034 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.379 |
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