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Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

BACKGROUND: 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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2008
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2180198/
https://ncbi.nlm.nih.gov/pubmed/18213369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0001460
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