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H446

Congenital Dyshormonogenic Hypothyroidism with Goiter (CDHG) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

Congenital Dyshormonogenic Hypothyroidism with Goiter (CDHG) is a disorder affecting the thyroid gland, which may cause symptoms such as a swollen neck, retarded growth and heart murmurs. This variant of the disorder is found in the Shih-Tzu, and is caused by a recessive mutation to the gene SLC5A5.

Kliniske egenskaper

Affected puppies present within the first few weeks of life with goiter (swelling of the thyroid gland in the throat). Further symptoms can include mild heart murmurs, cough and difficulty exercising, as well as reduced growth.

Tilleggsinformasjon

Referanser

Pubmed ID: 29777899

Omia ID: 2174

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