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20q13.2-q13.33 deletion syndrome: A case report
We report a 32-month-old female of Peruvian ethnicity identified with a rare 20q13.2-q13.33 deletion using microarray analysis. She presented with intellectual disability, absent speech, hypotonia, pre- and post-natal growth retardation and an abnormal face with a unilateral cleft lip. Clinical feat...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Georg Thieme Verlag KG
2013
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| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4203459/ https://ncbi.nlm.nih.gov/pubmed/25339993 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13065 |
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