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Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment
Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successful...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Georg Thieme Verlag KG
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487125/ https://www.ncbi.nlm.nih.gov/pubmed/26171318 http://dx.doi.org/10.1055/s-0035-1547529 |