Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.Q202_V203Splc
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LHX4

NM_033343.4:p.Q202_V203Splc

Associated Papers

Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.

Wang S et al.

Frontiers in Endocrinology, 2024

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Jullien N et al.

Clinical Endocrinology, 2021

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

Novel mutations associated with combined pituitary hormone deficiency.

Romero CJ et al.

Journal of Molecular 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

Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.

Melo ME et al.

Clinical Endocrinology, 2007

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

Genetic defects in the development and function of the anterior pituitary gland.

Cushman LJ et al.

Annals of Medicine, 2002

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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."