WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy

Joanna Walczak-Sztulpa,Anna Wawrocka,Weronika Sikora,Marta Pawlak,Ewelina Bukowska-Olech,Bartlomiej Kopaczewski,Agnieszka Urzykowska,Heleen H. Arts,Anna Gotz-Wieckowska,Ryszard Grenda,Anna Latos-Bielenska,Renata Glazar

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）

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Key words
ciliopathy,cranioectodermal dysplasia (Sensenbrenner syndrome),early-onset retinal dystrophy (EORD),end-stage renal disease (ESRD),cWDR35
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