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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Khan, Amjad, Umair, Muhammad, Sharaf, Rania Abdulfattah, Khan, Muhammad Ismail, Ullah, Amir, Abbas, Safdar, Shaheen, Nargis, Bilal, Muhammad, Ahamd, Farooq
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7695822/
https://ncbi.nlm.nih.gov/pubmed/33298898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00129-3
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