Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant of LHX3 NM_178138.5(LHX3):c.587T>C (p.(Leu196Pro)) that may be responsible for a milder phenotype...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Jullien, Nicolas, Romanet, Pauline, Philippon, Mélanie, Quentien, Marie-Hélène, Beck-Peccoz, Paolo, Bergada, Ignacio, Odent, Sylvie, Reynaud, Rachel, Barlier, Anne, Saveanu, Alexandru, Brue, Thierry, Castinetti, Frederic
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336933/
https://ncbi.nlm.nih.gov/pubmed/30262920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0264-6
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