Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.T163P
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LHX4

NM_033343.4:p.T163P

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

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

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."