@article{08d5ef36999247c89f2d24b37eba3d07,
title = "Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions",
keywords = "desmoglein, desmoplakin, metabolic wasting, SAM syndrome, severe dermatitis, RECESSIVE DSG1 MUTATIONS, MULTIPLE ALLERGIES, SEVERE DERMATITIS, PALMOPLANTAR KERATODERMA, DOMINANT, CARDIOMYOPATHY, DEFICIENCY, DYNC1H1, FAMILY, DOMAIN, 3121 General medicine, internal medicine and other clinical medicine",
author = "Svetlana Vakkilainen and Laura Puhakka and Paula Klemetti and Kaarina Heiskanen and Mikko Sepp{\"a}nen and Mikko Muona and Celine POSSEMEs and Darragh Duffy and Timo V{\"a}is{\"a}nen and Outi Elomaa and Maarit Palom{\"a}ki and Hard Saxen and Annamari Ranki and Katariina Hannula-Jouppi",
year = "2019",
month = jul,
doi = "10.2340/00015555-3203",
language = "English",
volume = "99",
pages = "789--796",
journal = "Acta Dermato-Venereologica",
issn = "0001-5555",
publisher = "Acta Dermato-Venereologica",
number = "9",
}