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A new SPINK5 mutation in a patient with Netherton syndrome: a case report |
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| Authors: | Alpigiani Maria G Salvati Pietro Schiaffino Maria Cristina Occella Corrado Castiglia Daniela Covaciu Claudia Lorini Renata |
| Affiliation: | Department of Pediatrics, Institute Giannina Gaslini IRCCS, Genoa, Italy. gianninaalpigiani@ospedale-gaslini.ge.it |
| Abstract: | We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase. |
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