syndrome de pendred
1Syndrome de pendred — Autre nom {{{Autre nom}}} Référence MIM …
2Syndrome de Pendred — Référence MIM 274600 Transmission Récessive Chromosome 7q31 Gène SLC26A4 Mutation Ponctuelle …
3Pendred syndrome — Classification and external resources OMIM 274600 DiseasesDB 9771 GeneReviews …
4Pendred syndrome — (PDS) is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid hormone. The features of Pendred syndrome… …
5Syndrome, Pendred — Pendred syndrome (PDS) is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid hormone. The features of… …
6Pendred syndrome — Pendred syndrome. См. синдром Пендреда. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …
7Syndrome, goiter-deafness — The goiter deafness syndrome, commonly called Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the… …
8Pendred's syndrome — ▪ pathology hereditary metabolic condition that is characterized by deafness and defective incorporation of iodine into thyroid hormone, resulting in goitre or enlargement of the thyroid gland. Pendred s syndrome is a major cause of… …
9syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …
10Pendred's syndrome — goitre associated with congenital deafness due to deficiency of peroxidase, an enzyme that is essential for the utilization of iodine. V. Pendred (1869 1946), British physician …