Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.T126M
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LHX4

NM_033343.4:p.T126M

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

Whole-exome sequencing identifies compound heterozygous LHX4 mutations in a fetus with early-onset growth restriction.

Lu YC et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2017

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

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.

Gregory LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."