Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 102, Issue 5, 2017, Pages 1726-1733

  Li, Dong ^a   Streeten, Elizabeth A ^b   Chan, Alice ^c   Lwin, Wint ^c,d   Tian, Lifeng ^a   Da Silva, Renata Pellegrino ^a   Kim, Cecilia E ^a   Anderson, Mark S ^c,d   Hakonarson, Hakon ^a,e   Levine, Michael A ^a,e  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; AUTOIMMUNE REGULATOR PROTEIN; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE; TRANSCRIPTION FACTOR SOX3; TRANSCRIPTION FACTOR;

AIRE GENE; ALLELE; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BIOINFORMATICS; CASE REPORT; CASR GENE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GCM2 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GNA11 GENE; HETEROZYGOSITY; HUMAN; HYPOPARATHYROIDISM; ISOLATED HYPOPARATHYROIDISM; MALE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PTH GENE; SANGER SEQUENCING; SOX3 GENE; WHOLE EXOME SEQUENCING; DNA SEQUENCE; GENETICS; HETEROZYGOTE; MIDDLE AGED; MUTATION; PEDIGREE; POLYENDOCRINOPATHY; SIBLING;

FEMALE; HETEROZYGOTE; HUMANS; HYPOPARATHYROIDISM; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PRIMARY OVARIAN INSUFFICIENCY; SEQUENCE ANALYSIS, DNA; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 85019149850     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2016-3836     Document Type: Article

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