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

• Main Authors: Kelly T. Harris (Author), Daniel G. Pique (Author), Lea A. Wehrli (Author), Andrew Trecartin (Author), Jonathan Roach (Author), Naomi J. Meeks (Author), Natalie J. Nokoff (Author), Duncan T. Wilcox (Author), Andrea Bischoff (Author)
• Format: Book
• Published: Elsevier, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...