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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Author
Pachlopnik Schmid, J.
Marquardt, L.
Lacour, M.
Hoernes, Miriam
Opitz, L.
Lecca, R.
Volkmer, B.
Reichenbach, Janine
Hohl, Daniel M.
Ansari, Marc
Özşahin, Hülya
Güngör, Tayfun
Pachlopnik Schmid, Jana M.
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Date
2017-03
Type
  • Other Journal Item
Publication status
published
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Journal / series
Journal of the European Academy of Dermatology & Venereology
Volume
31(3)
Pages / Article No.
e147 - e148
Publisher
Wiley-Blackwell
Organisational unit
02207 - Functional Genomics Center Zürich / Functional Genomics Center Zürich  
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