Analysis of variants in GATA4 and FOG2 / ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development-Reference-Cited by-同舟云学术

Analysis of variants in GATA4 and FOG2 / ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Published:2020-01-21 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Bergen Jocelyn A.¹,Robevska Gorjana¹,Eggers Stefanie²,Riedl Stefan³⁴,Grover Sonia R.¹⁵⁶,Bergman Philip B.⁷⁸,Kimber Chris⁹,Jiwane Ashish¹⁰,Khan Sophy¹¹,Krausz Csilla¹²,Raza Jamal¹³,Atta Irum¹³,Davis Susan R.¹⁴,Ono Makato¹⁵,Harley Vincent¹⁶,Faradz Sultana M. H.¹⁷,Sinclair Andrew H.¹⁶,Ayers Katie L.¹⁶^ORCID

Affiliation:

1. Genetics Murdoch Children's Research Institute Parkville Vic. Australia

2. Research Genomics Murdoch Children's Research Institute Parkville Vic. Australia

3. St. Anna Children's Hospital Medical University of Vienna Vienna Austria

4. Paediatric Department Medical University of Vienna Vienna Austria

5. Department of Paediatric and Adolescent Gynaecology Royal Children's Hospital Melbourne Parkville Vic. Australia

6. Department of Paediatrics University of Melbourne Melbourne Vic. Australia

7. Department of Paediatric Endocrinology and Diabetes Monash Children's Hospital Clayton Vic. Australia

8. Department of Paediatrics Monash University Clayton Vic. Australia

9. Department of Paediatric Urology Monash Children's Hospital Clayton Vic. Australia

10. Department of Urology Sydney Children's Hospital Randwick Randwick NSW Australia

11. Surgical Department Angkor Hospital for Children Siem Reap Cambodia

12. Department of Experimental and Clinical Biomedical Sciences“Mario Serio” University of Florence Firenze Toscana Italy

13. Paediatric Department National Institute of Child Health Karachi City Sindh Pakistan

14. Women's Health Research Program School of Public Health and Preventive Medicine Monash University Melbourne Vic. Australia

15. Department of Paediatrics Tokyo Bay Urayasu Ichikawa Iryo Center Urayasu Chiba Japan

16. Centre for Endocrinology and Metabolism Hudson Institute of Medical Research Clayton Vic. Australia

17. Division of Human Genetics Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU) Semarang Indonesia

Funder

National Health and Medical Research Council

Universitas Diponegoro

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1095

Reference57 articles.

1. Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations

2. A method and server for predicting damaging missense mutations

3. Prevalence of hypospadias and other genital anomalies among singleton births, 1988-1997, in Scotland

4. Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

5. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

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