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De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.
A female infant is described with an unusual combination of eye and skin findings. Raw linear skin lesions on the face and neck were present at birth, healing to leave pigmented streaks. In addition she had left sided microphthalmia and bilateral sclerocornea. Chromosome analysis showed a terminal d...
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| Publicado no: | J Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1990
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016883/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2308156/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.1.56 |
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