Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference24 articles.
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2. Laboratory medicine practice guidelines. Laboratory support for the diagnosis and monitoring of thyroid disease;Baloch;Thyroid,2003
3. New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome;Bini;Am. J. Med. Genet. A,2004
4. Investigation of deletions at 7q11.23 in 44 patients referred for Williams–Beuren syndrome, using FISH and four DNA polymorphisms;Brondum-Nielsen;Hum. Genet.,1997
5. Williams syndrome;Burn;J. Med. Genet.,1986
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2. Elevación de TSH en el cribado neonatal como primera manifestación de otras enfermedades asociadas;Endocrinología, Diabetes y Nutrición;2023-04
3. Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence;Frontiers in Endocrinology;2020-08-19
4. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations;Clinica Chimica Acta;2019-02
5. Endocrine manifestations in children with Williams-Beuren syndrome;Acta Paediatrica;2018-01-08
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