Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients

Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants

(2021) Hui Zhu et al.   Orphanet Journal of Rare Diseases

High-Throughput Reclassification of SCN5A Variants

(2020) Andrew M. Glazer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes

(2018) Hao Wang et al.   HUMAN GENETICS

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency

(2017) Berenice B. Mendonca et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development

(2017) Bingqing Yu et al.   STEROIDS

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

(2017) Robert Röhle et al.   BMC Endocrine Disorders

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment

(2016) Samim Özen et al.   Hormone Research in Paediatrics

Screening for mutations in 17 -hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development

(2015) N. Phelan et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall

(2015) Akitaka Shibata et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency

(2015) Ahmed Khattab et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Clinical, endocrine, and molecular findings in 17β -hydroxysteroid dehydrogenase type 3 deficiency

(2014) M. F. Faienza et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence

(2014) S. Bertelloni et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency

(2013) Carla Cristina Telles de Sousa Castro et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Novel Mutation Among Two Sisters With 17β Hydroxysteroid Dehydrogenase Type 3 Deficiency

(2013) Eric Z. Massanyi et al.   UROLOGY

Duplication of exons 3–10 of the HSD17B3 gene: A novel type of genetic defect underlying 17β-HSD-3 deficiency

(2012) Vassos Neocleous et al.   GENE

A genome-wide association study identifies two new risk loci for Graves' disease

(2011)   NATURE GENETICS

The Clinical and Molecular Heterogeneity of 17βHSD-3 Enzyme Deficiency

(2010) Minu M. George et al.   Hormone Research in Paediatrics

A splice site mutation combined with a novel missense mutation ofLHCGRcause male pseudohermaphroditism

(2009) Jie Qiao et al.   HUMAN MUTATION