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

Genetic Medicine

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

Fingerprint Dive into the research topics of 'The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis'. Together they form a unique fingerprint.

Chemical Compounds

Medicine & Life Sciences