Genitourinary and/or brain malformation syndrome

Definition:

Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental in the regulation of cell morphology and motility.

References:

[1]. Joel J Hughes, et al. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Am J Hum Genet. 2020 Jan 2;106(1):121-128. [Content Brief]

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