Article
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.
American journal of medical genetics. Part A - 1 Jul 2010
Asakura Yumi, Narumi Satoshi, Muroya Koji, Fujita Kazutoshi, Aida Noriko, Hasagawa Tomonobu, Adachi Masanori
Abstract excerpt
Biallelic mutations of SLC26A4 (encoding pendrin) cause Pendred syndrome (PS), an autosomal recessive genetic disorder with deafness and goiter. The mechanism underlying the development of the goiter is unknown. Here, we report clinical and molecular findings of a patient with PS. This 27-year-old woman was born to nonconsanguineous healthy parents. She was seen at our hospital due to hearing loss at age 3 years,...
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