Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening

Marquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari Djaberi, Marc Georges; Ozsahin, H; Güngör, T; Pachlopnik Schmid, J

doi:10.1111/jdv.13888

Scientific article

English

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening

ContributorsMarquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari Djaberi, Marc Georges; Ozsahin, H; Güngör, T; Pachlopnik Schmid, J

Published inJournal of the European Academy of Dermatology and Venereology, vol. 31, no. 3, p. e147-e148

Publication date2017

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Research groups

Oncologie et hématologie pédiatrique (907)

Citation (ISO format)

MARQUARDT, L et al. Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening. In: Journal of the European Academy of Dermatology and Venereology, 2017, vol. 31, n° 3, p. e147–e148. doi: 10.1111/jdv.13888

Article (Published version)

Identifiers

PID : unige:96512
DOI : 10.1111/jdv.13888
PMID : 27593400

Journal ISSN0926-9959

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Creation06/09/2017 13:45:00

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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening

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