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Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia
Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton,...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3998842/ https://ncbi.nlm.nih.gov/pubmed/24698628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaapos.2013.11.015 |
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