Associated Papers
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes.
Mercado Santis E et al.
Anales De Pediatria, 2025
Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.
Concolino P
Molecular Diagnosis & Therapy, 2024
Unequal crossing over between CYP11B2 and CYP11B1 causes 11 β -hydroxylase deficiency in a consanguineous family.
Xiong Y et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.
Li J et al.
Frontiers in Endocrinology, 2023
38027139 (PubMed )
Supplement: DataSheet_1.docx
Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient.
Menabò S et al.
Journal of Endocrinological Investigation, 2016
Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
Xu L et al.
Steroids, 2015
A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy.
Alqahtani MA et al.
International Journal of Endocrinology, 2015
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
Polat S et al.
European Journal of Endocrinology, 2014
Congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency.
White PC
Advances in Experimental Medicine and Biology, 2011
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
Chakrabarti B et al.
Autism Research : Official Journal of the International Society for Autism Research, 2009
Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.
Kuribayashi I et al.
Hormone Research, 2005
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