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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...

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Detalles Bibliográficos
Autores principales: Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2180198/
https://www.ncbi.nlm.nih.gov/pubmed/18213369
http://dx.doi.org/10.1371/journal.pone.0001460