Developmental Abnormalities of the Thyroid
Abstract Developmental anomalies of the thyroid gland (thyroid dysgenesis) underlie the majority of cases of congenital hypothyroidism. Only a small number of monogenic defects have been shown to result in…
Abstract Developmental anomalies of the thyroid gland (thyroid dysgenesis) underlie the majority of cases of congenital hypothyroidism. Only a small number of monogenic defects have been shown to result in…
Abstract Mutation is a sudden, inheritable change in DNA sequence. Single nucleotide variation (SNV), insertion or deletion of a few nucleotides (indels), rearrangements, change in the number of copies of…
Abstract Many molecular genetic abnormalities have been recognized in the setting of anterior pituitary adenomas. However, pituitary adenomas with heritable genetic causes are rare and have been described most often…
Abstract Hypoglycemia is a disorder with manifold potential etiologies, from environmental to inherited, from presenting in isolation to presenting as a small part of a clinical syndrome, from insulin excess…
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