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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...

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Библиографические подробности
Опубликовано в: :European J Pediatr Surg Rep
Главные авторы: Siminas, Sotirios, Baillie, Colin Tennant, Turnock, Richard
Формат: Artigo
Язык:Inglês
Опубликовано: Georg Thieme Verlag KG 2015
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4487125/
https://ncbi.nlm.nih.gov/pubmed/26171318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1547529
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