Associated Papers
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B et al.
Clinical Endocrinology, 2024
Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Altinkilic EM et al.
The Journal of Endocrinology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
Aghaei S et al.
Molecular Genetics and Genomics : Mgg, 2023
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.
Bakkar AA et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2023
Congenital lipoid adrenal hyperplasia with Graves' disease: A case report.
Wang YJ et al.
World Journal of Clinical Cases, 2022
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Kang E et al.
Molecular Medicine (cambridge, Mass.), 2017
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Huang Z et al.
Steroids, 2016
Long-term clinical data and molecular defects in the STAR gene in five Greek patients.
Sertedaki A et al.
European Journal of Endocrinology, 2013
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
Kim JM et al.
European Journal of Endocrinology, 2011
46,XY DSD due to impaired androgen production.
Mendonca BB et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
46,XY disorders of sex development (DSD).
Mendonca BB et al.
Clinical Endocrinology, 2009
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.
Jean A et al.
Prenatal Diagnosis, 2008
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.
Abdulhadi-Atwan M et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004