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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary...
Zapisane w:
| Wydane w: | J Pediatr Genet |
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| Główni autorzy: | , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Georg Thieme Verlag KG
2020
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| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7396461/ https://ncbi.nlm.nih.gov/pubmed/32765930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3402047 |
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