Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency-Reference-Cited by-同舟云学术

Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency

Published:2020-07-26 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Fan Lijun¹²^ORCID,Song Yanning¹²^ORCID,Polak Michel³,Li Lele¹²^ORCID,Ren Xiaoya¹²,Zhang Beibei¹²^ORCID,Wu Di¹²,Gong Chunxiu¹²^ORCID

Affiliation:

1. Department of Endocrinology, Genetics, Metabolism Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s Health Beijing China

2. Beijing Key Laboratory for Genetics of Birth Defects Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s Health Beijing China

3. Service d'endocrinologie, gynécologie et diabétologiepédiatriques Hôpitaluniversitaire Necker Enfants Maladesuniversité de ParisIMAGINE institute Paris France

Funder

Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1431

Reference26 articles.

1. Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey

2. The role of a clinical score in the assessment of ambiguous genitalia

3. Investigation and initial management of ambiguous genitalia

4. Molecular Characterization of 6 Unrelated Italian Patients With 5 -Reductase Type 2 Deficiency

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