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

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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Main Authors: Claire Rochette, Nicolas Jullien, Alexandru Saveanu, Emmanuelle Caldagues, Ignacio Bergada, Debora Braslavsky, Marija Pfeifer, Rachel Reynaud, Jean-Paul Herman, Anne Barlier, Thierry Brue, Alain Enjalbert, Frederic Castinetti
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4425544?pdf=render

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http://europepmc.org/articles/PMC4425544?pdf=render

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