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Interfamilial Clinical Variability in Four Polish Families with Cranioectodermal Dysplasia and Identical Compound Heterozygous Variants in WDR35

Joanna Walczak-Sztulpa,Anna Wawrocka,Malgorzata Stanczyk,Karolina Pesz,Lech Dudarewicz,Slawomir Chrul,Ewelina Bukowska-Olech,Nina Wieczorek-Cichecka,Heleen H. Arts,Machteld M. Oud,Robert smigiel,Ryszard Grenda,Ewa Obersztyn,Krystyna H. Chrzanowska,Anna Latos-Bielenska

American journal of medical genetics Part A（2021）

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关键词
Ciliopathy,clinical variability,renal failure,Sensenbrenner syndrome,WDR35
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