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

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...

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Bibliographic Details
Main Authors: Kelly T. Harris, Daniel G. Pique, Lea A. Wehrli, Andrew Trecartin, Jonathan Roach, Naomi J. Meeks, Natalie J. Nokoff, Duncan T. Wilcox, Andrea Bischoff
Format: Article
Language:English
Published: Elsevier 2023-08-01
Series:Journal of Pediatric Surgery Case Reports
Subjects:
Anorectal malformation
Difference in sexual development
Imperforate anus
Penoscrotal transposition
Case report
Online Access:http://www.sciencedirect.com/science/article/pii/S2213576623001057

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http://www.sciencedirect.com/science/article/pii/S2213576623001057

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