Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families

Dyshormonogenic congenital hypothyroidism (CH) generally results from biallelic defects in thyroid hormone synthesis genes. Whole exome sequencing allows easier identification of multiple gene defects. Two Sudanese families with CH resulting from oligogenic defects identified by whole exome sequenci...

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Détails bibliographiques
Publié dans:Thyroid
Auteurs principaux: Watanabe, Yui, Bruellman, Ryan J., Ebrhim, Reham S., Abdullah, Mohamed A., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.
Format: Artigo
Langue:Inglês
Publié: Mary Ann Liebert, Inc., publishers 2019
Sujets:
Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6389765/
https://ncbi.nlm.nih.gov/pubmed/30375286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2018.0295
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