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Giornale Italiano di Dermatologia e Venereologia 2018 May 16

DOI: 10.23736/S0392-0488.18.05931-X

Copyright © 2018 EDIZIONI MINERVA MEDICA

language: English

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy

Carmelo SCHEPIS 1 , Pinella FAILLA 2, Maddalena SIRAGUSA 1, Mirella VINCI 3, Francesco CALÌ 3

1 Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy; 2 Unit of Pediatrics and Medical Genetics, Oasi Research Institute-IRCCS, Troina, Enna, Italy; 3 Laboratory of Molecular Genetics, Oasi Research Institute-IRCCS, Troina, Enna, Italy


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