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Home > For Clinicians > List Of Publications > Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

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Defining the clinical phenotype of Saul-Wilson syndrome

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome

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