Mutations in the pendred syndrome (PDS/SLC26A) gene: An increasingly complex phenotypic spectrum from goiter to thyroid hypoplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 1, 2014, Pages 67-69

  Kopp, Peter ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PENDRIN; SODIUM IODIDE SYMPORTER; THYROGLOBULIN; THYROTROPIN; THYROTROPIN RECEPTOR; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR PAX8;

ALLELE; CONSANGUINITY; DISEASE ASSOCIATION; DNA SEQUENCE; ENLARGED VESTIBULE AQUEDUCT; EXOME; FOXE1 GENE; GENE; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GOITER; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; IODINE DEFICIENCY; MISSENSE MUTATION; NEWBORN SCREENING; NKX2.1 GENE; NKX2.5 GENE; NONHUMAN; PAX8 GENE; PDS GENE; PENDRED SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; SCINTIGRAPHY; SLC26A GENE; TG GENE; THYROGLOBULIN BLOOD LEVEL; THYROID DYSGENESIS; THYROID HORMONE SYNTHESIS; THYROID HYPERPLASIA; TSHR GENE; VESTIBULAR DISORDER; VESTIBULE AQUEDUCT;

CONGENITAL HYPOTHYROIDISM; FEMALE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; THYROID DYSGENESIS;

EID: 84892144885     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-4319     Document Type: Review

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