Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine POSSEMEs, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Hard Saxen, Annamari Ranki, Katariina Hannula-Jouppi

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalActa Dermato-Venereologica
Volume99
Issue number9
Pages (from-to)789-796
Number of pages8
ISSN0001-5555
DOIs
Publication statusPublished - Jul 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • desmoglein
  • desmoplakin
  • metabolic wasting
  • SAM syndrome
  • severe dermatitis
  • RECESSIVE DSG1 MUTATIONS
  • MULTIPLE ALLERGIES
  • SEVERE DERMATITIS
  • PALMOPLANTAR KERATODERMA
  • DOMINANT
  • CARDIOMYOPATHY
  • DEFICIENCY
  • DYNC1H1
  • FAMILY
  • DOMAIN
  • 3121 Internal medicine

Cite this

@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 Internal 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 = "7",
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",

}

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. / Vakkilainen, Svetlana; Puhakka, Laura; Klemetti, Paula; Heiskanen, Kaarina; Seppänen, Mikko; Muona, Mikko; POSSEMEs, Celine; Duffy, Darragh; Väisänen, Timo; Elomaa, Outi; Palomäki, Maarit; Saxen, Hard; Ranki, Annamari; Hannula-Jouppi, Katariina.

In: Acta Dermato-Venereologica, Vol. 99, No. 9, 07.2019, p. 789-796.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

AU - Vakkilainen, Svetlana

AU - Puhakka, Laura

AU - Klemetti, Paula

AU - Heiskanen, Kaarina

AU - Seppänen, Mikko

AU - Muona, Mikko

AU - POSSEMEs, Celine

AU - Duffy, Darragh

AU - Väisänen, Timo

AU - Elomaa, Outi

AU - Palomäki, Maarit

AU - Saxen, Hard

AU - Ranki, Annamari

AU - Hannula-Jouppi, Katariina

PY - 2019/7

Y1 - 2019/7

KW - desmoglein

KW - desmoplakin

KW - metabolic wasting

KW - SAM syndrome

KW - severe dermatitis

KW - RECESSIVE DSG1 MUTATIONS

KW - MULTIPLE ALLERGIES

KW - SEVERE DERMATITIS

KW - PALMOPLANTAR KERATODERMA

KW - DOMINANT

KW - CARDIOMYOPATHY

KW - DEFICIENCY

KW - DYNC1H1

KW - FAMILY

KW - DOMAIN

KW - 3121 Internal medicine

U2 - 10.2340/00015555-3203

DO - 10.2340/00015555-3203

M3 - Article

VL - 99

SP - 789

EP - 796

JO - Acta Dermato-Venereologica

JF - Acta Dermato-Venereologica

SN - 0001-5555

IS - 9

ER -