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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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Detalhes bibliográficos
Main Authors: Young, Marielle P., Sawyer, Briana L., Hartnett, M. Elizabeth
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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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