Associated Papers
Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.
Wankanit S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2025
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism.
Wang Y et al.
Translational Andrology and Urology, 2023
Fertility and fragrance: another cause of Kallmann syndrome.
Melmed S
The Journal of Clinical Investigation, 2015
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.
Cariboni A et al.
The Journal of Clinical Investigation, 2015
SEMA3E mutation in a patient with CHARGE syndrome.
Lalani SR et al.
Journal of Medical Genetics, 2004
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