Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.G370S
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LHX4

NM_033343.4:p.G370S

Associated Papers

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.

Santoro C et al.

Children (basel, Switzerland), 2025

40150646 (PubMed )
Supplement: children-12-00364-s001.zip › children-3478755-TABLE_6_-_SUPPLEMENTAL_MATERIAL.xlsx › Foglio1

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.

Reynaud R et al.

European Journal of Endocrinology, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Congenital pituitary hormone deficiencies: role of LHX3/LHX4 genes.

Castinetti F et al.

Expert Review of Endocrinology & Metabolism, 2008

A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.

Castinetti F et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."