Molecular genetics of disorders of sex development in a highly consanguineous population-Reference-Cited by-同舟云学术

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Molecular genetics of disorders of sex development in a highly consanguineous population

Published:2021-04 Issue: Volume:208 Page:105736
ISSN:0960-0760
Container-title:The Journal of Steroid Biochemistry and Molecular Biology
language:en
Short-container-title:The Journal of Steroid Biochemistry and Molecular Biology

Author:

Alswailem Meshael,Alsagheir Afaf,Abbas Bassam Ben,Alzahrani Ohoud,Alzahrani Ali S.

Funder

King Abdulaziz City for Science and Technology

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference41 articles.

1. Consensus statement on management of intersex disorders;Hughes;Arch Dis Child,2006

2. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders;Miller;Endocr Rev,2011

3. Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child’s moral claims to self-determination with parental values and preferences;Diamond;J Pediatr Urol,2018

4. Disorders of Sexual Differentiation: Ethical Considerations Surrounding Early Cosmetic Genital Surgery;Anderson;Pediatr Nurs,2015

5. State of the art review in gonadal dysgenesis: challenges in diagnosis and management;McCann-Crosby;Int J Pediatr Endocrinol,2014

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1. A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia;Heliyon;2024-08

2. Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1;Biochemical Genetics;2023-09-07

3. 11β-Hydroxylase Deficiency Caused by a Novel CYP11B1 Variant: A Case Report;Journal of Nature and Science of Medicine;2023-04

4. Hypogonadism;Steroids in the Laboratory and Clinical Practice;2023

5. Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency;Diagnostics;2022-09-07

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