Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops-Expanding the phenotype of IPEX syndrome

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 226-232

  Reichert, Sara L ^a   Mckay, Eileen M ^a   Moldenhauer, Julie S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Fetal hydrops; FOXP3 mutations; IPEX syndrome; Prenatal diagnosis; Whole exome sequencing

Indexed keywords

TRANSCRIPTION FACTOR FOXP3; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN; STOP CODON;

ADULT; ARTICLE; AUTOPSY; CASE REPORT; EXOME; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FETUS WASTAGE; FOXP3 GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IPEX SYNDROME; MALE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PREGNANCY TERMINATION; PRIORITY JOURNAL; CLUBFOOT; DIABETES MELLITUS, TYPE 1; DIARRHEA; GENETICS; IMMUNE DEFICIENCY; IMMUNE SYSTEM DISEASES; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; STOP CODON; X CHROMOSOME LINKED DISORDER;

ADULT; CLUBFOOT; CODON, NONSENSE; DIABETES MELLITUS, TYPE 1; DIARRHEA; FEMALE; FETUS; FORKHEAD TRANSCRIPTION FACTORS; GENETIC DISEASES, X-LINKED; HUMANS; HYDROPS FETALIS; IMMUNE SYSTEM DISEASES; IMMUNOLOGIC DEFICIENCY SYNDROMES; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84955649784     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37401     Document Type: Article

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