Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1. (1st June 2021) - Loh, A.Y.T.; Ho, C.M.; Muthiah, S.; Venkatesh, B.; Zwolinski, S.; Bray, A.P.J.J.; Reversade, B.; Rajan, N.; Carney, T.J.