Associated Papers
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Laan M et al.
Clinical Endocrinology, 2021
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
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
Gorbenko Del Blanco D et al.
European Journal of Endocrinology, 2012
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