Article

MYOCD-associated congenital megabladder: novel variants and insights into prenatal phenotypic diversity

2026-08-17

Abstract excerpt

Myocardin, encoded by MYOCD , is a key transcriptional coactivator of serum response factor that is essential for smooth muscle cell differentiation and contractility. Loss-of-function variants in MYOCD have been reported to cause congenital megabladder (MGBL), a rare and severe developmental defect. To date, only six pathogenic variants across five families have been documented worldwide. Four unrelated Chinese f...

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Literature Corpus work: bf0047b4-823e-5b72-8466-842afc7b6597
DOI: 10.1186/s12884-026-09754-2

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