A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency

BACKGROUND/AIMS: Recessive mutations in the LHX3 ho-meodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD) who harbor a novel mutation in LHX3. METHOD...

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Main Authors: Bechtold-Dalla Pozza, Susanne, Hiedl, Stefan, Roeb, Julia, Lohse, Peter, Malik, Raleigh E., Park, Soyoung, Durán-Prado, Mario, Rhodes, Simon J.
Formáid: Artigo
Teanga:Inglês
Foilsithe: S. Karger AG 2012
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Original Paper
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355643/
https://ncbi.nlm.nih.gov/pubmed/22286346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335929
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