thyroid dysgenesis/arginine

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[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].

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ractText>To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China.ractText>ractText>Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

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BACKGROUND Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this study

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

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BACKGROUND Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism (CH), and its genetic basis is largely unknown. Hitherto, two mutations in the human thyroid transcription factor 2 (TTF-2) gene have been described in unrelated cases of CH with cleft palate, spiky hair, variable

Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.

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A growth-retarded, mentally deficient, young man is described with diminished secretory response of growth hormone, thyrotropin, and prolactin to the pharmacologic stimuli of insulin, arginine, chlorpromazine, and thyrotropin-releasing hormone. Gonadotropin and ACTH functions were normal both

Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism.

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BACKGROUND Congenital hypothyroidism (CH) is a neonatal endocrine disease with an incidence of 1:2000 to 1:4000 worldwide. In about 85% of patients CH is secondary to thyroid dysgenesis, but its pathogenesis remains unclear. Thyroid transcription factors, such as paired box transcription factor 8

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