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Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

Isolated growth hormone deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD) are heterogeneous disorders with several different etiologies and they are responsible for most cases of short stature. Mutations in different genes have been identified but still many patients did not present...

詳細記述

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書誌詳細
主要な著者: Flavio Rizzolio, Silvia Bione, Cinzia Sala, Carla Tribioli, Roberto Ciccone, Orsetta Zuffardi, Natascia di Iorgi, Mohamad Maghnie, Daniela Toniolo
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science (PLoS) 2008-01-01
シリーズ:PLoS ONE
オンライン・アクセス:http://europepmc.org/articles/PMC2180198?pdf=render
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