46, XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation-Reference-Cited by-同舟云学术

46, XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation

Published:2020-09-19 Issue:12 Volume:182 Page:2887-2890
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kunitomo Mia¹^ORCID,Khokhar Aditi²^ORCID,Kresge Christina³,Edobor‐Osula Folorunsho⁴^ORCID,Pletcher Beth A.³

Affiliation:

1. Rutgers New Jersey Medical School New Jersey USA

2. Division of Endocrinology, Department of Pediatrics Rutgers New Jersey Medical School New Jersey USA

3. Division of Clinical Genetics, Department of Pediatrics Rutgers New Jersey Medical School New Jersey USA

4. Department of Orthopedics Rutgers New Jersey Medical School New Jersey USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61860

Reference13 articles.

1. The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome

2. The LIM homeobox gene Lhx9 is essential for mouse gonad formation

3. Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

4. Mammalian sex determination—insights from humans and mice

5. Gene Summary: National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library.NR5A1 gene;2020. Retrieved fromhttps://ghr.nlm.nih.gov/gene/NR5A1

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