Publication | Closed Access

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Developmental AnomalyMendelian DisorderGenetic DisorderMedicineGeneticsMutation DetectionPathologyMolecular GeneticsPrenatal DiagnosisDisease Gene IdentificationMonogenic DisordersNetherton SyndromeClinical Genetics