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

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0 Published in 2018 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-018-0264-6

Abstract: 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… read more here.

Keywords: heterozygous lhx3; lhx3 mutations; 178138 lhx3; lhx3 ... See more keywords