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...

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Huvudupphovsmän: Flavio Rizzolio, Silvia Bione, Cinzia Sala, Carla Tribioli, Roberto Ciccone, Orsetta Zuffardi, Natascia di Iorgi, Mohamad Maghnie, Daniela Toniolo
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science (PLoS) 2008-01-01
Serie:PLoS ONE
Länkar:http://europepmc.org/articles/PMC2180198?pdf=render
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