A Novel PPP1R12A Splice-Site Variant Identified in a Female Fetus With Perineal Hamartoma.

What is already known about this topic? ◦. P0050P1R12A‐related UBMS is characterized by midline brain anomalies and urogenital defects; and reported urogenital anomalies predominantly affect male (46, XY) individuals, while prenatal findings in female (46, XX) individuals remain poorly defined. What does this study add? ◦. We report a de novo splice‐site PPP1R12A variant in a female fetus with perineal hamartoma. This observation may represent a novel prenatal manifestation in female individuals.