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.
Naqvi SF, Yıldız-Bölükbaşı E, Afzal M, Nalbant G, Mumtaz S, Tolun A, Malik S. Yale J Biol Med. 2023 Sep; 96(3):347-365. Epub 2023 Sep 29.