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Giornale Italiano di Dermatologia e Venereologia 2020 April;155(2):239-40
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