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, M; Ozsahin, H; Güngör, T; Pachlopnik Schmid, Jana (2017). 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. Journal of the European Academy of Dermatology and Venerology, 31(3):e147-e148.