{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T22:46:17Z","timestamp":1752360377551,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,9]],"date-time":"2021-01-09T00:00:00Z","timestamp":1610150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010438","name":"Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu","doi-asserted-by":"publisher","award":["502\u201014\u201001126186\u201010642"],"award-info":[{"award-number":["502\u201014\u201001126186\u201010642"]}],"id":[{"id":"10.13039\/501100010438","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED is a chondrodysplasia, which is part of a spectrum of clinically and genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants in genes encoding components of the ciliary transport machinery are known to cause CED. Intra\u2010 and interfamilial clinical variability has been reported in a few CED studies and the findings of this study align with these observations. Here, we report on five CED patients from four Polish families with identical compound heterozygous variants [c.1922T&gt;G p.(Leu641Ter) and c.2522A&gt;T; p.(Asp841Val)] in <jats:italic>WDR35<\/jats:italic>. The frequent occurrence of both identified changes in Polish CED families suggests that these variants may be founder mutations. Clinical evaluation of the CED patients revealed interfamilial clinical variability among the patients. This includes differences in skeletal and ectodermal features as well as variability in development, progression, and severity of renal and liver insufficiency. This is the first report showing significant interfamilial clinical variability in a series of CED patients from unrelated families with identical compound heterozygous variants in <jats:italic>WDR35<\/jats:italic>. Our findings strongly indicate that other genetic and non\u2010genetic factors may modulate the progression and expression of the patients' phenotypes.<\/jats:p>","DOI":"10.1002\/ajmg.a.62067","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T00:29:48Z","timestamp":1610670588000},"page":"1195-1203","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Interfamilial clinical variability in four <scp>Polish<\/scp> families with cranioectodermal dysplasia and identical compound heterozygous variants in <scp><i>WDR35<\/i><\/scp>"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4662-9336","authenticated-orcid":false,"given":"Joanna","family":"Walczak\u2010Sztulpa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan 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