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PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we iden...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5109987/ https://ncbi.nlm.nih.gov/pubmed/27867343 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000448852 |
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