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Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism.
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Caractéristiques
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | Autosomique récessif |
| Chromosome | 17 |
| Also known as | CHG |
| Mutation | c.1777C>T |
Informations générales
Congenital hypothyroidism with goiter (CHG) causes developmental delay and a constelation of signs collectively known as cretinism. The disease is caused by a mutation in the thyroid peroxidase (TPO) gene. Hereditary CHG is an autosomal recessive disorder. Thyroid peroxidase is a multi-functional enzyme required for thyroid hormone synthesis.
Caractéristiques cliniques
Clinical signs include delayed opening of the eyes and ear canals, poor nursing, inactivity, unresponsiveness to environmental stimuli, macroglossia and hypomyelination of the central nervous system.
Additional Information
Références
Pubmed ID: 23113744
Year published: 2012
Omia ID: 536
Omia variant ID: 50