Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. [electronic resource]
Producer: 20170508Description: 1219-1225 p. digitalISSN:- 1552-4833
- Adult
- Cell Differentiation -- genetics
- Diabetes Mellitus, Type 1 -- congenital
- Diarrhea -- diagnosis
- Female
- Fetus
- Forkhead Transcription Factors -- genetics
- Frameshift Mutation
- Genetic Diseases, X-Linked -- diagnosis
- Humans
- Immune System Diseases -- congenital
- Male
- NF-kappa B -- genetics
- NFATC Transcription Factors -- genetics
- Pregnancy
- T-Lymphocytes, Regulatory -- immunology
- Ultrasonography, Prenatal
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Publication Type: Case Reports; Journal Article
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