Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies

Context: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency. Objectives: Our objectives were to determine the nature and frequency of LHX4 mutati...

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Auteurs principaux: Pfaeffle, Roland W., Hunter, Chad S., Savage, Jesse J., Duran-Prado, Mario, Mullen, Rachel D., Neeb, Zachary P., Eiholzer, Urs, Hesse, Volker, Haddad, Nadine G., Stobbe, Heike M., Blum, Werner F., Weigel, Johannes F. W., Rhodes, Simon J.
Format: Artigo
Langue:Inglês
Publié: The Endocrine Society 2008
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2266965/
https://ncbi.nlm.nih.gov/pubmed/18073311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-1525
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