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
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