Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary hormone deficiency (CPHD) in Humans. We identified 4 new LHX4 heterozygous allelic variants in patients...

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Detalles Bibliográficos
Autores principales: Rochette, Claire, Jullien, Nicolas, Saveanu, Alexandru, Caldagues, Emmanuelle, Bergada, Ignacio, Braslavsky, Debora, Pfeifer, Marija, Reynaud, Rachel, Herman, Jean-Paul, Barlier, Anne, Brue, Thierry, Enjalbert, Alain, Castinetti, Frederic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425544/
https://www.ncbi.nlm.nih.gov/pubmed/25955177
http://dx.doi.org/10.1371/journal.pone.0126648

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