GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
Yıl: 2022 Cilt: 14 Sayı: 4 Sayfa Aralığı: 469 - 474 Metin Dili: İngilizce DOI: 10.4274/jcrpe.galenos.2021.2021.0112 İndeks Tarihi: 21-05-2023
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
Öz: 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- 4variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.
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| APA | ÇELİK N, Küçük KURTULGAN H, Kılıçbay F, Tunç G, KOMÜRLÜOGLU A, Tasci O, Caglar Simsek C, çınar t, SIDAR DUMAN Y (2022). GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. , 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| Chicago | ÇELİK Nurullah,Küçük KURTULGAN Hande,Kılıçbay Fatih,Tunç Gaffari,KOMÜRLÜOGLU AYÇA,Tasci Onur,Caglar Simsek Cemile Ece,çınar taha,SIDAR DUMAN YEŞİM GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. (2022): 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| MLA | ÇELİK Nurullah,Küçük KURTULGAN Hande,Kılıçbay Fatih,Tunç Gaffari,KOMÜRLÜOGLU AYÇA,Tasci Onur,Caglar Simsek Cemile Ece,çınar taha,SIDAR DUMAN YEŞİM GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. , 2022, ss.469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| AMA | ÇELİK N,Küçük KURTULGAN H,Kılıçbay F,Tunç G,KOMÜRLÜOGLU A,Tasci O,Caglar Simsek C,çınar t,SIDAR DUMAN Y GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. . 2022; 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| Vancouver | ÇELİK N,Küçük KURTULGAN H,Kılıçbay F,Tunç G,KOMÜRLÜOGLU A,Tasci O,Caglar Simsek C,çınar t,SIDAR DUMAN Y GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. . 2022; 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| IEEE | ÇELİK N,Küçük KURTULGAN H,Kılıçbay F,Tunç G,KOMÜRLÜOGLU A,Tasci O,Caglar Simsek C,çınar t,SIDAR DUMAN Y "GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature." , ss.469 - 474, 2022. 10.4274/jcrpe.galenos.2021.2021.0112 |
| ISNAD | ÇELİK, Nurullah vd. "GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature". (2022), 469-474. https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112 |
| APA | ÇELİK N, Küçük KURTULGAN H, Kılıçbay F, Tunç G, KOMÜRLÜOGLU A, Tasci O, Caglar Simsek C, çınar t, SIDAR DUMAN Y (2022). GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. Journal of Clinical Research in Pediatric Endocrinology, 14(4), 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| Chicago | ÇELİK Nurullah,Küçük KURTULGAN Hande,Kılıçbay Fatih,Tunç Gaffari,KOMÜRLÜOGLU AYÇA,Tasci Onur,Caglar Simsek Cemile Ece,çınar taha,SIDAR DUMAN YEŞİM GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. Journal of Clinical Research in Pediatric Endocrinology 14, no.4 (2022): 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| MLA | ÇELİK Nurullah,Küçük KURTULGAN Hande,Kılıçbay Fatih,Tunç Gaffari,KOMÜRLÜOGLU AYÇA,Tasci Onur,Caglar Simsek Cemile Ece,çınar taha,SIDAR DUMAN YEŞİM GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. Journal of Clinical Research in Pediatric Endocrinology, vol.14, no.4, 2022, ss.469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| AMA | ÇELİK N,Küçük KURTULGAN H,Kılıçbay F,Tunç G,KOMÜRLÜOGLU A,Tasci O,Caglar Simsek C,çınar t,SIDAR DUMAN Y GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. Journal of Clinical Research in Pediatric Endocrinology. 2022; 14(4): 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| Vancouver | ÇELİK N,Küçük KURTULGAN H,Kılıçbay F,Tunç G,KOMÜRLÜOGLU A,Tasci O,Caglar Simsek C,çınar t,SIDAR DUMAN Y GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. Journal of Clinical Research in Pediatric Endocrinology. 2022; 14(4): 469 - 474. 10.4274/jcrpe.galenos.2021.2021.0112 |
| IEEE | ÇELİK N,Küçük KURTULGAN H,Kılıçbay F,Tunç G,KOMÜRLÜOGLU A,Tasci O,Caglar Simsek C,çınar t,SIDAR DUMAN Y "GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature." Journal of Clinical Research in Pediatric Endocrinology, 14, ss.469 - 474, 2022. 10.4274/jcrpe.galenos.2021.2021.0112 |
| ISNAD | ÇELİK, Nurullah vd. "GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature". Journal of Clinical Research in Pediatric Endocrinology 14/4 (2022), 469-474. https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112 |
