Add to ORKGThyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and daughter with congenital hypothyroidism caused by different forms of thyroid dysgenesis. The father had a severely hypoplastic thyroid gland in a normal location, whereas the daughter had an ectopic thyroid gland in a sublingual position. Her brother had a hypoplastic thyroid but was euthyroid. The involvement of the candidate gene, PAX8, as the cause of thyroid dysgenesis in this family was partially excluded by linkage analysis, and the possibility of a de novo mutation excluded by sequencing
Abstract Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a re...
Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally...
Primary congenital hypothyroidism (CH) is the most frequent endocrine metabolic disease in the infan...
Thyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and ...
Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000-4,000 newborn...
OBJECTIVE: To analyse the coding region of PAX8 in individuals with congenital (CH) or post neonata...
Background Congenital hypothyroidism (CH) is a common endocrine disease that occurs in about 1:3000...
Background: Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid ag...
Context: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor ...
Identification of a novel pax8 gene sequence a subclinical hypothyroidism associated with thyroid hy...
Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism...
Background: Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects ...
Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder characterized by elev...
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however fami...
WOS: 000367653300010PubMed ID: 26777044Objective: Congenital hypothyroidism (CH) is the most common ...
Abstract Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a re...
Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally...
Primary congenital hypothyroidism (CH) is the most frequent endocrine metabolic disease in the infan...
Thyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and ...
Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000-4,000 newborn...
OBJECTIVE: To analyse the coding region of PAX8 in individuals with congenital (CH) or post neonata...
Background Congenital hypothyroidism (CH) is a common endocrine disease that occurs in about 1:3000...
Background: Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid ag...
Context: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor ...
Identification of a novel pax8 gene sequence a subclinical hypothyroidism associated with thyroid hy...
Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism...
Background: Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects ...
Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder characterized by elev...
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however fami...
WOS: 000367653300010PubMed ID: 26777044Objective: Congenital hypothyroidism (CH) is the most common ...
Abstract Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a re...
Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally...
Primary congenital hypothyroidism (CH) is the most frequent endocrine metabolic disease in the infan...