Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.

Louie, Raymond J

Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. [electronic resource] - American journal of medical genetics. Part A May 2017 - 1219-1225 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.38144 doi


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