Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.Y116C
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LHX3

NM_014564.5:p.Y116C

Associated Papers

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Ramzan K et al.

Bmc Endocrine Disorders, 2017

Solution structure of the LIM-homeodomain transcription factor complex Lhx3/Ldb1 and the effects of a pituitary mutation on key Lhx3 interactions.

Bhati M et al.

Plos One, 2012

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

Pfaeffle RW et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.

Bhangoo AP et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."