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Data · dataset · 2020

Thyroid disease in children with PTEN hamartoma tumor syndrome

Listed in DataCite

PTEN genetic variants and associated thyroid phenotypes in 64 subjects with PTEN hamartoma tumor syndrome diagnosed prior to 19 years of age.

Description

Variants were classified according to American College of Medical Genetics and Genomics criteria. Neurological findings were abstracted from the medical record.

Thyroid nodules were assessed by thyroid ultrasound. Thyroid autoimmunity was assessed by measurement of serum thyroid autoantibodies. Institutional Review Board approval was obtained prior to the study.

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Topics

Stated by source
Basic medicine
Inferred from text
Cancer 65% · Disease 75%

Related

Provenance · 1 source records, 11 field assertions
SourceKeyLast seenRaw
DataCite10.6084/m9.figshare.1333393414 d agoJSON v1
FieldAssertionExtractorEvidence
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concepts[disease].local:disease:cancerenrichment · DataCitekeyword-concept-rules@1.0.0title+description (65%)
concepts[disease].local:disease:diseaseenrichment · DataCitekeyword-concept-rules@1.0.0title+description (75%)
concepts[field].fos:basic-medicinesource · DataCiteconnector:datacite@1.0.0
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