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

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dc.contributor.authorNaqvi, Syeda Farwa
dc.contributor.authorYildiz\\-Boeluekbasi, Esra
dc.contributor.authorAfzal, Muhammad
dc.contributor.authorNalbant, Goekhan
dc.contributor.authorMumtaz, Sara
dc.contributor.authorTolun, Aslihan
dc.contributor.authorMalik, Sajid
dc.date.accessioned2025-10-16T15:14:45Z
dc.date.issued2023
dc.identifier.otherWOS:001098576800005
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6266
dc.publisherYALE J BIOLOGY MEDICINE, INC
dc.sourceYALE JOURNAL OF BIOLOGY AND MEDICINE
dc.subjectverbal apraxia
dc.subjectgoiter
dc.subjectshort stature
dc.subjecthigh myopia
dc.subjectmicrocephaly
dc.subjectthyroid dysgenesis
dc.titleHomozygous 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
dc.typeArticle

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