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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation
We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonat...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3507269/ https://ncbi.nlm.nih.gov/pubmed/23239960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000342253 |
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