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Growth Failure in Focal Dermal Hypoplasia
Focal Dermal Hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study sought to elucidate specific causes for short statu...
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| Veröffentlicht in: | Am J Med Genet A |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6435029/ https://ncbi.nlm.nih.gov/pubmed/30693654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61051 |
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