MANAGEMENT OF A CHILD WITH A DIFFERENCE IN SEX DEVELOPMENT CAUSED BY A NR5A1 PATHOGENIC VARIANT
Introduction: Differences of Sex Development (DSD) occur in approximately 1/5000 live births. One of the recently found genetic causes for 46, xY DSD is NR5A1 gene variants, responsible for a broad phenotypic spectrum. Case Report: We present a case of a full-term newborn with ambiguous genitalia: o...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
The Society for Children with Metabolic Disorders,
2023-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |