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Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human patient, with no forebrain or eye defects. Two individuals carrying a homozygous substitution of th...

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Autori principali: Sajedi, Ezat, Gaston-Massuet, Carles, Signore, Massimo, Andoniadou, Cynthia L., Kelberman, Daniel, Castro, Sandra, Etchevers, Heather C., Gerrelli, Dianne, Dattani, Mehul T., Martinez-Barbera, Juan Pedro
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Company of Biologists Limited 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2590837/
https://ncbi.nlm.nih.gov/pubmed/19093031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.000711
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