GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature Article Swipe
Nurullah Çelik
,
Hande Küçük Kurtulgan
,
Fatih KILIÇBAY
,
Gaffari Tunç
,
Ayça Kömürlüoğlu
,
Onur Taşçı
,
Cemile Ece Çağlar Şimşek
,
Taha Çınar
,
Yeşim Sıdar Duman
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112
The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two copy number variation) have been previously reported. In these cases, the phenotype may range from a mild undervirilization to complete female external genitalia. The haploinsufficiency may be caused by a sequence variant or copy number variation (8p23 deletion). The aim of this study was to present two unrelated patients with DSD due to GATA-4 variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112
- https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112
- OA Status
- gold
- Cited By
- 3
- References
- 24
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3192965281
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3192965281Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112Digital Object Identifier
- Title
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GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the LiteratureWork title
- Type
-
reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-08-06Full publication date if available
- Authors
-
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih KILIÇBAY, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşçı, Cemile Ece Çağlar Şimşek, Taha Çınar, Yeşim Sıdar DumanList of authors in order
- Landing page
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https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112Publisher landing page
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https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112Direct OA link when available
- Concepts
-
Haploinsufficiency, Missense mutation, Disorders of sex development, Phenotype, Genetics, Medicine, Genotype, Genotype-phenotype distinction, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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3Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
24Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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