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Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecula...

詳細記述

保存先:
書誌詳細
主要な著者: Mende, Rose H., Drake, David P., Olomi, Raimos M., Hamel, Ben C. J.
フォーマット: Artigo
言語:Inglês
出版事項: Hindawi Publishing Corporation 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3529426/
https://ncbi.nlm.nih.gov/pubmed/23304577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/247683
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