Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma

Intellectual disability (ID) involves compromised intellectual, learning and cognitive skills, and behavioral capabilities with reduced psychomotor skills. One of the preventable causes of ID is congenital hypothyroidism (CH), which may be due to biallelic mutations in thyroid peroxidase (TPO). In l...

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Detalles Bibliográficos
Autores principales: Naqvi, Syeda Farwa, Yıldız-Bölükbaşı, Esra, Afzal, Muhammad, Nalbant, Gökhan, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2023
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524819/
https://www.ncbi.nlm.nih.gov/pubmed/37780999
http://dx.doi.org/10.59249/SSRG6507

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