Authors: Sprecher, E Chavanas, S DiGiovanna, JJ Amin, S Nielsen, K Prendiville, JS Silverman, R Esterly, NB Spraker, MK Guelig, E de Luna, ML Williams, ML Buehler, B Siegfried, EC Van Maldergem, L Pfendner, E Bale, SJ Uitto, J Hovnanian, A Richard, G

Citation: E. Sprecher et al., The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis, J INVES DER, 117(2), 2001, pp. 179-187