Varaico: Literature-Extracted Genetic Variants

Gene:LHX4
Variant:p.D128D
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LHX4

NM_033343.4:p.D128D

Associated Papers

Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Kałużna M et al.

Endocrine Connections, 2025

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Kałużna M et al.

Frontiers in Endocrinology, 2024

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Kałużna M et al.

Genes, 2021

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

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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."