Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1.
Loh AYT, Ho CM, Muthiah S, Venkatesh B, Zwolinski S, Bray APJJ, Reversade B, Rajan N, Carney TJ. Br J Dermatol. 2021 Jun; 184(6):1205-1207. Epub 2021 Mar 10.