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PedAM

Pediatric Disease Annotations & Medicines




Disease respiratory failure
Phenotype C0010308|congenital hypothyroidism
Sentences 1
PubMedID- 21867529 Ttf-1 haploinsufficiency secondary to deletions or mono-allelic mutations of the nkx2.1 gene has been recognized as a rare cause of neonatal or infantile respiratory failure, often associated with congenital hypothyroidism and/or benign hereditary chorea [16-20], referred to as "brain-lung-thyroid syndrome".

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