Associated Papers
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
Turton JP et al.
Clinical Endocrinology, 2005
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
Rainbow LA et al.
Clinical Endocrinology, 2005
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
McLennan K et al.
Clinical Endocrinology, 2003
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