Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text

Allelic Variant, Sequence Variants, Medicine +11

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Christa E. Flück, T Tajima, Amit V. Pandey et al. · Nature Genetics · 2004 · 508 citations · Full text

Oxysterol, Mendelian Disorder, Genetic Disorder +10

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

Wiebke Arlt, Elizabeth A. Walker, Nicole L. Draper et al. · The Lancet · 2004 · 345 citations

Adrenal Gland, Urology, Congenital Adrenal Hyperplasia +11

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Ningwu Huang, Amit V. Pandey, Vishal Agrawal et al. · The American Journal of Human Genetics · 2005 · 342 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Nils Krone, Nicole Reisch, Jan Idkowiak et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 163 citations · Full text