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

Overview of attention for article published in Human Genome Variation, November 2020

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So far, Dimensions has found 3 publications that cite this research output.

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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

Article in The Yale Journal of Biology and Medicine (September 2023)

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review

Article in Molecular and Cellular Endocrinology (August 2022)

Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7

Article in Journal of Endocrinological Investigation (November 2021)