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PedAM

Pediatric Disease Annotations & Medicines




Disease goiter
Phenotype C0010308|congenital hypothyroidism
Sentences 6
PubMedID- 22336364 Method: five patients who had transit congenital hypothyroidism with goiter were enrolled.
PubMedID- 21565790 Context: congenital hypothyroidism (ch) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (duox2) mutations in the presence of iodide organification defect.
PubMedID- 23223904 congenital hypothyroidism with goiter (chg) occurring as an autosomal recessive disorder is typically due to a defect of thyroid hormone synthesis (aka dyshormonogenesis).
PubMedID- 26478542 Background: a case of congenital hypothyroidism with goiter (chg) in a juvenile french bulldog was identified and hypothesized to be caused by dyshormonogenesis of genetic etiology.
PubMedID- 23737781 congenital hypothyroidism (ch) with multinodular goiter (mng) is uncommonly seen in children.
PubMedID- 23113744 Background: a cluster of cases of congenital hypothyroidism with goiter (chg) in tenterfield terriers was identified and hypothesized to be dyshormonogenesis of genetic etiology with autosomal recessive inheritance.

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