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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Bibliographische Detailangaben
Veröffentlicht in:Thyroid
Hauptverfasser: Watanabe, Yui, Bruellman, Ryan J., Ebrhim, Reham S., Abdullah, Mohamed A., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Mary Ann Liebert, Inc., publishers 2019
Schlagworte:
Brief Reports on Novel Mutations Associated with Inherited Thyroid Disorders
Online Zugang: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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