Associated Papers
A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.
Janot C et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Tang S et al.
Endocrine, 2024
Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.
Prakash A et al.
Scientific Reports, 2021
33986442 (PubMed )
Supplement: 41598_2021_89798_MOESM3_ESM.xlsx › Table_S1
A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene.
Marakaki C et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
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