Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46, XX ovotesticular difference of sexual development-Reference-Cited by-同舟云学术

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46, XX ovotesticular difference of sexual development

Published:2021-05-29 Issue:9 Volume:185 Page:2782-2788
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Qian Zhiyu¹,Grand Katheryn²^ORCID,Freedman Andrew³,Nieto Maria C.⁴,Behlmann Andrea⁵,Schweiger Bahareh M.¹²,Sanchez‐Lara Pedro A.¹²^ORCID

Affiliation:

1. Department of Pediatrics David Geffen School of Medicine at UCLA Los Angeles California USA

2. Department of Pediatrics Cedars‐Sinai Medical Center Los Angeles California USA

3. Department of Surgery Cedars‐Sinai Medical Center Los Angeles California USA

4. Department of Biological Sciences California State University Hayward California USA

5. PerkinElmer Genomics Duluth Georgia USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62373

Reference37 articles.

1. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

2. Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant?

3. Germ Cell Tumors in the Intersex Gonad: Old Paths, New Directions, Moving Frontiers

4. ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

5. Results from a pediatric surgical centre justify early intervention in disorders of sex development

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2. 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes;Frontiers in Endocrinology;2024-05-22

3. Diagnosis and management of non-CAH 46,XX disorders/differences in sex development;Frontiers in Endocrinology;2024-05-15

4. Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs;Biology of Reproduction;2024-03-26

5. Ovotesticular Disorder of Sex Development Presenting as a Scrotal Emergency;Pediatrics;2023-11-22