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Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A

5 Jun 2023

Abstract excerpt

BACKGROUND: Genitourinary and/or brain malformation syndrome (GUBS) is a recently discovered syndrome involving abnormalities of the neurological or urogenital system. PPP1R12A may be the pathological gene causing this syndrome. Currently, to our knowledge, there is only one study related to GUBS in the world. Here, we report a clinical case of a Chinese newborn with congenital micropenis caused by a non-coding...

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PMID: 37272772
DOI: 10.1002/mgg3.2223

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