Anorectal malformation in a 46,XY patient with a de novo stop-loss variant in PPP1R12A and associated difference in sexual development: A case report
Introduction: Here we report an infant with a 46,XY karyotype and novel de novo PPP1R12A stop-loss variant with a concomitant anorectal malformation (ARM) and difference in sex development (DSD). Case report: This is an infant born with ambiguous genitalia and rectoperineal fistula. Genetic testing...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-08-01
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| Series: | Journal of Pediatric Surgery Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576623001057 |