Why the study?
To report a patient presenting with persistent hypotonia despite congenital hypothyroidism treatment who was found to harbor a novel TTN variant and a DUOX2 variant.
The co-occurrence of a novel TTN variant and a DUOX2 variant highlights the importance of comprehensive genetic evaluation in infants with persistent hypotonia despite endocrine therapy.
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Warrants prompt cardiac screening in persistent infantile hypotonia; hypothesis-generating for titinopathy overlap with congenital hypothyroidism.
Yıldız et al. (2026) studied this question.
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