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Nazlı Büşra Açıkgöz

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Open access Aug 2026

Recognizing Stuve–Wiedemann syndrome in childhood: clinical insights from 11 patients with founder and novel LIFR variants

The high rate of consanguinity in Türkiye, together with the recurrent p.(Arg692Ter) variant in LIFR identified in multiple unrelated families, supports the possibility of a founder effect and suggests that the frequency of Stuve–Wiedemann syndrome in the population may be higher than expected.

Gizem Ürel Demir, Nazlı Büşra Açıkgöz, G. Utine et al. · 0 citations

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