Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.L190R
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LHX3

NM_178138.6:p.L190R

Associated Papers

Pituitary Hypoplasia.

Gangat M et al.

Endocrinology and Metabolism Clinics of North America, 2017

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

Fang Q et al.

Endocrine Reviews, 2016

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.

Tajima T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2013

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Role of transcription factors in midline central nervous system and pituitary defects.

Kelberman D et al.

Endocrine Development, 2009

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

Castinetti F et al.

Expert Review of Endocrinology & Metabolism, 2008

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

Pfaeffle RW 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."