Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels-Reference-Cited by-同舟云学术

Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels

Published:2013-04 Issue:4 Volume:56 Page:207-210
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Boccone Loredana,Dessì Valentina,Meloni Antonella,Loudianos Georgios

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference11 articles.

1. Some examples of the inheritance of mental deficiency: apparently sex linked idiocy and microcephaly;Allan;Am. J. Ment. Defic.,1944

2. Allan, Herndon and Dudley syndrome II. Linkage to DNA markers in Xq21;Schwartz;Am. J. Hum. Genet.,1990

3. Thyroid hormone transport in and out of cells;Visser;Trends Endocrinol. Metab.,2008

4. Allan–Herndon–Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene;Schwartz;Am. J. Hum. Genet.,2005

5. Genetics and phenomics of thyroid hormone transport by MCT8;Friesema;Mol. Cell. Endocrinol.,2010

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