Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

Congenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. CH is a multifactorial complex disorder and can be caused by either environmental factors or genetic factors. We studied one Pakistani family with segregating mutations in CH inherited in an a...

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Detalles Bibliográficos
Autores principales: Khan, Amjad, Umair, Muhammad, Sharaf, Rania Abdulfattah, Khan, Muhammad Ismail, Ullah, Amir, Abbas, Safdar, Shaheen, Nargis, Bilal, Muhammad, Ahamd, Farooq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695822/
https://www.ncbi.nlm.nih.gov/pubmed/33298898
http://dx.doi.org/10.1038/s41439-020-00129-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695822/
https://www.ncbi.nlm.nih.gov/pubmed/33298898
http://dx.doi.org/10.1038/s41439-020-00129-3

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