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Unusual dermatological presentation and immune phenotype in SCID due to anIL7Rmutation: the value of whole-exome sequencing and the potential benefit of newborn screening
- Source :
- Journal of the European Academy of Dermatology and Veneralogy, Journal of the European Academy of Dermatology and Venereology, Vol. 31, No 3 (2017) pp. e147-e148
- Publication Year :
- 2016
- Publisher :
- Wiley, 2016.
- Subjects :
- 0301 basic medicine
610 Medicine & health
10071 Functional Genomics Center Zurich
Dermatology
Bioinformatics
2708 Dermatology
03 medical and health sciences
0302 clinical medicine
Immunity
Medicine
Interleukin-7 receptor
Exome sequencing
Immune phenotype
Newborn screening
ddc:618
business.industry
2725 Infectious Diseases
Phenotype
030104 developmental biology
Infectious Diseases
10036 Medical Clinic
Mutation (genetic algorithm)
570 Life sciences
biology
Presentation (obstetrics)
business
030215 immunology
Subjects
Details
- ISSN :
- 09269959
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Journal of the European Academy of Dermatology and Venereology
- Accession number :
- edsair.doi.dedup.....904bace7d9198404cd9060b1e1657183
- Full Text :
- https://doi.org/10.1111/jdv.13888