Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.K83Splc
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LHX4

NM_033343.4:p.K83Splc

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

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

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M et al.

Plos One, 2012

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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."