Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

Arjan C Houweling, Glenda M Beaman, Alex V Postma, T Blair Gainous, Klaske D Lichtenbelt, Francesco Brancati, Filipa M Lopes, Ingeborg van der Made, Abeltje M Polstra, Michael L Robinson, Kevin D Wright, Jamie M Ellingford, Ashley R Jackson, Eline Overwater, Rita Genesio, Silvio Romano, Letizia Camerota, Emanuela D'Angelo, Elizabeth J Meijers-Heijboer, Vincent M ChristoffelsKirk M McHugh, Brian L Black, William G Newman, Adrian S Woolf, Esther E Creemers

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Biochemistry, Genetics and Molecular Biology