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PedAM

Pediatric Disease Annotations & Medicines




Disease congenital hypothyroidism
Symptom C1563716|thyroid dysgenesis
Sentences 2
PubMedID- 20484477 Context: homozygous loss-of-function mutations in forkhead box e1/thyroid transcription factor 2 (foxe1/ttf-2) cause syndromic congenital hypothyroidism, with thyroid dysgenesis, cleft palate, spiky hair, and variable choanal atresia and bifid epiglottis in three cases reported hitherto.
PubMedID- 25538886 Context: ectopic thyroid gland (etg) is known to be the most common form of thyroid dysgenesis in children with permanent congenital hypothyroidism (ch).

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