Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.W204*
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LHX4

NM_033343.4:p.W204*

Associated Papers

A case of congenital hypopituitarism harboring a nonsense variant in the LHX4 gene.

Koizumi M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.

Hemwong N et al.

Journal of Advanced Research, 2020

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

Fang Q et al.

Endocrine Reviews, 2016

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.

Castinetti F et al.

European Journal of Endocrinology, 2016

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

Rochette C et al.

Plos One, 2015

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.

Alatzoglou KS et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."