A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. Issue 5 (10th January 2022) - Yamoto, Kaori; Okada, Satoshi; Kato, Fumiko; Fujisawa, Yasuko; Fukami, Maki; Saitsu, Hirotomo; Ogata, Tsutomu