Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
Author:
Publisher
The Endocrine Society
Subject
Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism
Cited by 248 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Caracterización de una cohorte de pacientes pediátricos con Hiperplasia Suprarrenal Congénita;Andes Pediatrica;2022-08-18
2. Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision);CLIN PEDIATR ENDOCRI;2022
3. Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India;European Journal of Medical Genetics;2021-12
4. Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype–phenotype correlation using next generation sequencing in Southeastern Anatolia;Journal of Endocrinological Investigation;2021-03-06
5. Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele;Clinical Pediatric Endocrinology;2021
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