The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis

Eli Sprecher, Shivan Amin, Karl Nielsen, Ellen Pfendner, Jouni Uitto, Gabriele Richard, Stephane Chavanas, John J. Digiovanna, Julie S. Prendiville, Robert Silverman, Nancy B. Esterly, Mary K. Esterly, Guelig Ed, Margharita Larralde de Luna, Mary L. Williams, Bruce Buehler, Elaine C. Siegfried, Lionel Van Maldergem, Sherri J. Bale, Alain Hovnanian