GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
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 cop...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2022-12-01
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| Series: | JCRPE |
| Subjects: | |
| Online Access: | https://jcrpe.org/jvi.aspx?un=JCRPE-30974&volume=14&issue=4 |